B. PATHOPHYSIOLOGY 1.

) Anatomy and Physiology of the Hematologic System The blood and blood-forming tissues that make up the hematologic system play a vital role in body metabolism: transporting oxygen and nutrients to body cells, removing carbon dioxide from cells, and initiating blood coagulation when vessels are injured. Blood components originate in the bone marrow, circulate through blood vessels, and ultimately are destroyed by the spleen. Blood Formation and Components The hematologic system manufactures new blood cells through a process called hematopoiesis. Multipotential stem cells in bone marrow give rise to five distinct cell types, called unipotential stem cells. Unipotential cells differentiate into one of the following types of blood cells: Erythrocyte, Granulocyte, Agranulocyte, and Platelet. The formation of blood cells begins in the fetal yolk sac as early as week 2 of intrauterine life. By month 2 of intrauterine life, the liver and spleen begin forming blood components. At approximately month 4, the bone marrow becomes and remains the active center for the origination of blood cells. As in extrauterine life, the spleen serves as the organ for the destruction of blood cells once their normal lifespan has passed. The total blood volume in the body is roughly proportional to the body weight: 85ml/kg at birth, 75ml/kg at 6 months age, and 70ml/kg after the first year. The blood plasma (the liquid portion containing proteins,
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hormones, enzymes, and electrolytes) is in equilibrium with the fluid of interstitial tissue spaces. Plasma is not a major site of hematologic disease. The formed elements in the blood which include the erythrocytes (RBCs), the leukocytes (WBCs), and thrombocytes (Platelets) are the portions most affected by hematologic disorders in children. Erythrocytes [Red Blood Cells (RBCs) RBCs function chiefly to transport oxygen and carbon dioxide to and from body cells. They are formed under the stimulation of erythropoietin produced from the kidneys that is stimulated whenever a child has tissue hypoxia. RBCs form first as erythroblasts (large, nucleated cells), then mature through normoblast and reticulocyte stages to mature nonnucleated erythrocytes. Approximately 1% of RBCs are in reticulocyte stage at all times. An elevated reticulocyte count indicates that rapid production of new RBCs is occurring. The absence of a nucleus in the mature RBCs allows for increased space for oxygen transport, but it also limits the life of cells because metabolic processes are limited. At the end of their lifespan (about 120 days), erythrocytes are destroyed by reticuloendothelial cells found in the highest proportion in the spleen. In infants, the long bones of the body are filled with red marrow actively producing RBCs. In early childhood, yellow marrow begins to replace this in long bones so blood element production is then carried out mainly in the ribs, scapulae, vertebrae, and skull bones. The yellow marrow in the extremities can be activated if necessary to additional blood products.
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At birth, an infant has approximately 5 million RBCs/mm3. This concentration decreases rapidly in the first months, reaching a low of approximately 4.1 million/mm3 at 3 to 4 months of age. The number then slowly increases until adolescence, when the adult value of approximately 4.9 million/mm3 is reached. Hemoglobin, a complex protein, is the component of RBCs that allows them to carry out the transport of oxygen. It is composed of heme, an ironcontaining pigment and globin, a protein dependent on nitrogen metabolism for its formation. The haemoglobin amount in blood varies according to the number of RBCs present and the average amount of haemoglobin each cell contains. Hemoglobin levels are highest at birth (13.7 to 20.1 g/100 ml); they reach a low at approximately 3 months of age (9.5 t0 14.5 g/100 ml), and then gradually rise again until adult values are reached at puberty (11 to 16 g/100 ml). Bilirubin. After RBCs reach its lifespan, it disintegrates and its protein component is preserved by specialized cells in the liver and spleen (reticuloendothelial cells) for further use. Iron is released for reuse by the bone marrow to construct new RBCs. As the heme portion is degraded, it is converted into protoporphyrin. Protoporphyrin is then further broken down into indirect bilirubin. Indirect bilirubin is fat soluble and cannot be excreted by the kidneys in this state. It is therefore converted by the liver enzyme glucoronyl transferase into direct bilirubin, which is water soluble. This is then excreted in bile.
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In the newborn, generally liver function is so immature that the conversion of from indirect bilirubin to direct bilirubin cannot be made. Because of this, bilirubin remains in the indirect for. When the indirect bilirubin in the blood is rises to more than 7mg/100ml. it permeates outside the circulatory system, and the infant shows signs of yellowing or jaundice. If excessive hemolysis (destruction) of RBCs occurs from other than natural causes, a child will also show signs of jaundice. Leukocytes [White Blood Cells (WBCs) WBCs are nucleated cells. They are few in number compared with RBCs, with approximately 1 WBC to every 500 RBCs. Their primary function is defense against antigen invasion. They are classified as granulocytes

(those with granules in the cell cytoplasm) or agranulocytes (those without granules in the cell cytoplasm). The granulocytes, collectively known as the polymorphonuclear leukocytes, include the neutrophils, eosinophils, and basophils. The agranulocytes are further differentiated as monocytes and lymphocytes. The neutrophils, the most numerous granulocytes are phagocytic cells that engulf, ingest, and digest foreign materials. Worn-out neutrophils form the main component of pus and the bone marrow produces their replacements, called bands. In response to infection, bone marrow must produce many immature cells. Another type of granulocytes is the Eosinophil (accounts for 0.3% to 7% of circulating WBCs) which is involved in the ingestion of antigen-antibody complexes. On the other hand, the
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basophils (usually constitutes fewer than 2% of circulating WBCs) are granulocytes that possess little or no phagocytic ability but they secrete histamine in response to certain inflammatory and immune stimuli. Histamine makes the blood vessels more permeable and eases the passage of fluids from the capillaries into body tissues. The monocytes are the largest WBCs but they only constitute 0.6% to 9.6% of WBCs in circulation. They are phagocytic. Macrophages are monocytes that roam freely through the body when stimulated by inflammation; they defend against infection and dispose of cell breakdown products, and they concentrate in the liver, spleen, and lymph nodes, where they defend against invading organisms. They ingest microorganisms, cellular debris, and necrotic tissue, phagocytize cellular remnants and promote wound healing. The lymphocytes on the other hand are the smallest WBCs but they are the second most numerous. They are derived from stem cells in the bone marrow and have two types: the T lymphocytes which directly attack an infected cell and the B lymphocytes which produce antibodies against specific antigens. A typical total white cell count is 5,000 to 10,000 cells/mm 3 of blood. The WBC count is approximately 20,000/mm3, a high level caused by the trauma of birth. In the newborn, granulocytes are the most common WBCs. By 14 to 30 days of life, the total WBC count falls approximately 12,000/mm3, and lymphocytes become the dominant type. By 4 years, the WBC count reaches an adult level (5,000 to 10,000 cells/mm3), and
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granulocytes are again the dominant type. Leukocytes are produced in response to need. Their life span varies from approximately 6 hours to unknown intervals. Thrombocytes (Platelets) Thrombocytes are round, oval, or irregular biconvex discs. Each disc is bounded by a plasma membrane within which there are mitochondria and membrane bound vesicles. There is no nucleus. In ordinary blood films, the platelets appear to have a clear outer zone (hyalomere) and a granular central part (granulomere). The normal range is 150,000 to 300,000/mm3 after the first year. They originate in the bone marrow from a giant cell known as a megakaryocyte. The megakaryocytes form platelets by pinching off bits of cytoplasm and extruding them into the blood. The life of a platelet is about 10 days Platelets contain several clotting factors, calcium ions, ADP, serotonin, and various enzymes. Their function is capillary hemostasis and primary coagulation. Hemostasis Damage of the vasculature quickly leads to massive bruising and, if, unrepaired, to extreme blood loss and consequently organ failure.

Hemostasis, the physiological processes that stop bleeding, is critical for human health. The hemostatic system includes blood platelets, endothelial cells, and plasma coagulation factors, which work together to rapidly form a hemostatic plug in an injured blood vessel (The platelets play an important
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role in stopping bleeding by clumping together and forming a plug, thereby beginning the repair of injured blood vessels. Clotting factors like factor VIII and IX are then needed to glue the plug in place thus forming a clot.) Hemostasis is activated on exposure to foreign surfaces during bleeding, by torn tissue at the site of injury, or by products released from the interior of damaged cells. It can be organized into four separate but interrelated events: compression and vasoconstriction, the formation of a temporary loose platelet plug, blood coagulation and, finally, clot retraction. Physical and Chemical factors Immediately Act to Constrain

Bleeding (STEP 1) Immediately after tissue injury, blood flow through the disrupted vessel is slowed by the interplay of several important physical factors. These include back-pressure exerted by the tissue around the injured area and vasoconstriction. The degree of compression varies in different tissues; for example, bleeding below the eye is not readily deterred because the skin in this area is easily distensible. A black eye is the consequence. The backpressure increases as blood leaks out of the disrupted capillaries and accumulates in the surrounding tissue. Sometimes, contraction of underlying muscles further compresses the blood vessels. This is one of the physiological actions to minimize blood loss from the uterus after childbirth. In addition to physical aspects, damaged cells at the site of tissue injury release potent chemical substances that directly cause blood vessels to

constrict. These include serotonin, thromboxane A2, epinephrine, and fibrinopeptide B.

Platelets Form a Hemostatic Plug (STEP 2) Platelets (thrombocytes) are the major contributor of the second phase of hemostasis. They are irregularly shaped, disk-like fragments of their precursor cell, the megakaryocyte. They are to 1/3 the size of erythrocytes (1.5 to 3.0 mcm). Several factors stimulate megakaryocytes to release platelets within the bone marrow sinusoids. This include the hormone thrombopoietin, which is mainly generated by the liver and the kidneys and released in response to low numbers of circulating platelets. Platelets have no defined nucleus but possess important proteins, which are stored in intracellular granules and secreted when platelets are activated during coagulation. Platelets adhere to each other and to the endothelial surface of blood vessels, forming multicellular aggregates. The aggregates form a physical barrier that begins to limit blood loss soon after the opening in the blood vessel occurs. Platelet adherence can be initiated by a variety of substances that bind to receptors on the platelet surface. Disruption of the endothelium at sites of tissue injury exposes proteins in the in the subendothelial matrix, such as collagen and laminin, which induce or support platelet adherence. Other plasma factors, or factors released by platelets during clotting, cause
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the upregulation of adherence of proteins, called integrins, on endothelial cells. This in turn further activates the endothelial cells to release additional hemostatic substances. One important factor is called von Willebrand factor. It is a protein synthesized by endothelial cells and megakaryocytes that enhances platelet adherence by forming a bridge between platelet surface receptors and collagen in the subenothelial matrix. Phospholipids on the platelet plasma membrane activate the enzyme thrombin, which initiates a cascade of events ending in clot formation. Ruptured cells at the site of tissue injury release adenosine diphosphate (ADP), which causes platelets to aggregate at the damage site. Finally, aggregated platelets discharge their storage granules and release factors that enhance coagulation. Blood Coagulation Results in the Production of a Fibrin Clot (STEP 3) Normally during circulation, the blood does not clot because the enzymes involved in clotting are in inactive form. During the process of blood clotting, the clotting factors which are in inactive forms are converted into active forms and their enzymatic actions process the successive reactions one after another in a cascading manner. The process of clotting involves the conversion of soluble blood protein. The fibrinogen (which are found dissolved in plasma) into insoluble fibrous protein fibrin (which is in the form of long delicate fibers). In general, clotting occurs in three stages: (1)

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formation of prothrombin activator, (2) conversion of prothrombin into thrombin, (3) conversion of fibrinogen into fibrin.

1. Formation of prothrombin activator The prothrombin activator is formed by the intrinsic and extrinsic pathway. Intrinsic pathway As blood comes in contact with the exposed collagen of the injured blood vessel, one of the clotting factors, Hageman factor (Also called Factor XII), a chemical substance that is found circulating in the blood, is activated.
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The activation of Hageman factor starts a number of reactions in the area: the clot formation process is activated, the clot-dissolving process is activated, and the inflammatory response is started. The activated Hageman factor activates clotting factor XI [plasma thromboplastin antecedent (PTA)]. The activated factor XI activates factor IX. Activated factor IX activates factor X in presence of factor VIII and Ca++ (but in extrinsic pathway factor VII is involved in the activation of factor X). The activated factor X along with Ca+ + and factor V activates prothrombin. Prothrombin such formed has a positive feedback effect through factor V. If it is unchanged, the clot will continue to grow larger and larger. This feedback effect is checked by the following: If the blood flow is maintained; plasmin or fibrinolysin is introduced. Factor V is also activated by positive feedback effect of thrombin. The intrinsic pathway ends with the conversion of prothrombin to thrombin. Activated thrombin breaks down fibrinogen to form insoluble fibrin threads which form a clot inside the blood vessel. The clot called a thrombus, acts to plug the injury and seal the system. Extrinsic pathway While the coagulation process is going on inside the blood vessel via the intrinsic pathway, the blood that has leaked out of the vascular system and into the surrounding tissues is caused to clot by the extrinsic pathway. Injured cells release a substance called tissue thromboplastin. The

thromboplastin contains proteins, phospholipid and glycoprotein, which act as proteolytic enzymes. Tissue thromboplastin III activates factor VII.
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Activated factor VII activates factor X in the process of Ca++, factor III and platelets phospholipids. The activated factor X convert prothrombin into activated thrombin in the presence of Ca++ and factor V. Factor V is important because it causes positive feedback effect. In both the cases the key reaction is conversion of factor V, Ca++, platelets phospholipids that form prothrombin activator. In this stage, factor acts as cofactor. 2. Conversion of prothrombin into thrombin The common point in the intrinsic and extrinsic pathways is the activation of factor X to factor Xa. Factor Xa activates prothrombin (factor II) to thrombin (factor IIa) in the presence of Ca++.

3. Conversion of fibrinogen into fibrin During this, the insoluble fibrinogen is converted into soluble

fibrinogen by thrombin. The fibrinogen is converted into loose thread of fibrin in the presence of thrombin and Ca++. This fibrin is stabilized by factor XIII forming stable fibrous thread. The number of fibrin threads forms the clot which scales the damage tissue or vessels.

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Clot Retraction (Step 4) After the formation of blood clot, the clot begins to contract and after about 30-45 minutes, a straw coloured fluid called serum oozes out of the clot. The process involving the contraction of blood clot and oozing of serum is called clot retraction. The contractile protein namely actin, myosin, present in cytoplasm of platelets are responsible for clot retraction. It is the process of tightening of the fibrin clot and is also known as syneresis. The stabilized threads of fibrin fix themselves by their ends to ends of the damage tissue close together so that they can seal the damage tissue. For reference, specific clotting factors are identified in this table: FACTO R I II STRUCTURE Protein Protein NAME Fibrinogen Prothrombin SOURCE Liver Liver, requires vitamin K Damage d tissue, Activated platelets Bone, diet, platelets Liver, platelets
CONCENTRATI ON IN PLASMA (mcg/ml)

PATHWAY Common Common

2500-3500 100

III

Lipoprotein

Tissue factor (TF)

Extrinsic

IV V

Ion Protein

Calcium ions Proaccelerin

100 10

Entire process Extrinsic and

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intrinsic VI VII (No longer used) Protein Liver, Proconvertin requires vitamin K Platelets, Antihemophil endotheli ic factor al cells Plasma Liver, thromboplas requires tin vitamin K StuartLiver, Prower requires factor vitamin K Plasma thromboplas tin Liver antecedent (PTA) Hageman factor Fibrin stabilizing factor (FSF) Liver 0.5 Extrinsic

VIII

Protein Protein factor Protein

15

Intrinsic

IX

Intrinsic Extrinsic and intrinsic

10

XI

Protein

<5

Intrinsic

XII

Protein

<5

XIII

Protein

Liver, platelets

20

Intrinsic, also activates plasmin Stabilizes fibrin, slows fibrinolysis

Clot Resolution and Anticlotting Process Blood plasma also contains anticlotting substances that inhibit clotting reactions that might otherwise lead to an obstruction of blood vessels by blood clots. For example, antithrombin III prevents the formation of thrombin, thus stopping the breakdown of the fibrin threads.

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Another substance in the plasma, called plasmin or fibrinolysin, dissolves clots to ensure free movement of blood through the system. Plasmin is a protein-dissolving substance that breaks down the fibrin framework of blood clots and opens up vessels. Its precursor, called plasminogen, is made in the liver and is found in the plasma. The conversion of plasminogen to plasmin begins with the activation of Hageman factor and is facilitated by a number of other factors including antidiuretic hormone (ADH), epinephrine, pyrogens, emotional stress, physical activity, and the chemicals urokinase and streptokinase. Plasmin helps to keep blood vessels open and functional. Very high levels of plasmin are found in the lungs (which contain millions of tiny, easily injured capillaries) and in the uterus (which in pregnancy must maintain a constant blood flow for the developing fetus).

References: Alcamo, E. (2004). Anatomy and physiology the easy way. Barron's educational series, p 293 de Graaff, K, et. al.(1997). Schaum's outline of human anatomy and physiology, p. 265 Frederic, et. al.(2007).Anatomy and physiology, p. 497 Karch, A.(2011).Focus on nursing pharmacology edition 5.Lippincott Williams and Wilkins, pp. 764-766 Singh(2008). Anatomy and physiology for nurses. Jaypee brothers publishers, p. 112 Singh, I.(2008). Anatomy and physiology for paramedicals. Jaypee Brothers Publishers, pp. 102-105

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2.) Readings Background Haemophilia (from the Greek haima 'blood' and philia 'love') is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken. The term "haemophilia" is derived from the term "haemorrhaphilia" which was first used by Friedrich Hopff in 1828 (Wikipedia, 2012).
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The oldest recognition of hemophilia is an indirect reference in the Talmud, a collection of Jewish religious writings from the 2nd century AD which notes that male babies did not have to be circumcised if two brothers had already died from the procedure. Hemophilia has been called The Royal Disease because it afflicted the royal families of Europe during the reign of Queen Victoria (1837- 1901) of England. The Queen was a carrier trait to her daughters, who in turn passed it on to German, Spanish, and Russian royalty in the nineteenth century (National Hemophilia Foundation, 2006). Hemophilia is usually inherited. It is passed passed down from parents genes to a child. The genes for hemophilia A and B are on the X

chromosome. For this reason, hemophilia is called an X-linked (or sex-linked) disorder. Sometimes hemophilia can occur when there is no family history of it. This is called sporadic hemophilia. About 30% of people with hemophilia did not get it through their parents genes (World Federation of Hemophilia, 2012). Types of Hemophilia The three types of hemophila are types A, B, and C. In each case, a different clotting factor is missing, making the task of blood clotting difficult or impossible. In type A hemophilia, factor VIII is deficient. The person with type B hemophilia lacks factor IX and with type C hemophilia lacks factor XI. Types A and B are X-linked; therefore it occurs in men but is carried by asymptomatic women. Type C hemophilia can occur in either sex. Some cases of hemophilia result from a spontaneous gene mutation in persons
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with no previous family history of the disease. The two major forms of hemophilia that can occur in mild to severe forms are hemophilia A (classic hemophilia) and hemophilia B (Christmas disease). von Willebrands disease is a related disorder involving a deficiency of the von Willebrands coagulation protein. Classification according to Severity Severe FVIII or FIX activity Prevalenc e Cause of bleeding Frequenc y of bleeding < 1% 60% Spontaneous Moderate 1% 5% ~15% Minor trauma, not commonly spontaneous 4 6/year Joint, soft tissue +/bleeding after circumcision, +/neonatal intracranial hemorrhage, bleeding with surgical procedures Mild 6% 49% ~25% Major trauma, surgery Uncommon Joint, soft tissue, +/- bleeding after circumcision, bleeding with surgical procedures

2 4/month Joint, soft tissue, bleeding after circumcision, neonatal intracranial hemorrhage, bleeding with surgical procedures

Pattern of bleeding

Incidence Hemophilia is the most common bleeding disorder. Hemophilia A is the most common X-linked genetic disease and the second most common factor deficiency after von Willebrand disease (vWD). The worldwide incidence of hemophilia A is approximately 1 case per 5000 male individuals, with
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approximately one third of affected individuals not having a family history. The prevalence of hemophilia A varies with the reporting country, with a range of 5.4-14.5 cases per 100,000 male individuals. In the Philippines, there are about 8,000 persons with hemophilia, but only 1,000 of them are registered with the Philippine Hemophilia Foundation (PHF). In the United States, the prevalence of hemophilia A is 20.6 cases per 100,000 male individuals, with 60% of those having severe disease. An estimated 17,000 people were affected with hemophilia A in the United States in 2003. Hemophilia A occurs in all races and ethnic groups. In general, the demographics of hemophilia follow the racial distribution in a given population; for example, rates of hemophilia among whites, African Americans, and Hispanic males in the US are similar. Because hemophilia is an X-linked, recessive condition, it occurs predominantly in males. Females usually are asymptomatic carriers. However, mild hemophilia may be more common in carriers than previously recognized. In 1 study, 5 of 55 patients with mild hemophilia (factor levels 5-50%) were girls. Females may have clinical bleeding due to hemophilia if 1 of 3 conditions is present: (1) extreme lyonization (ie, inactivation of the normal FVIII allele in one of the X chromosomes), (2) homozygosity for the hemophilia gene (ie, father with hemophilia and mother who is a carrier, two independent mutations, or some combination of inheritance and new mutations), or (3) Turner syndrome (XO) associated with the affected hemophilia gene (Zaiden, 2012).

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Hemophilia A Hemophilia A is referred to as classic hemophilia and was first recognized in the second century AD. The disease is an X-linked bleeding disorder caused by defects in

the clotting

cascade enzyme factor

VIII. Factor VIII serves as a cofactor in the activation of factor X to Xa in a reaction referred to as the "tenase" complex. When one of the proteins, for example, factor VIII, is absent, the dominos stop falling (coagulation cascade), and the chain reaction is broken. Clotting does not happen, or it happens much more slowly than normal. The platelets at the site of the injury do not mesh into place to form a permanent clot. The clot is 'soft' and easily displaced. Without treatment, bleeding will continue until the pressure outside the broken vessel is equal to the pressure inside. This can take days and sometimes weeks (Canadian Hemophilia Society, 2012). Etiology

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Hemophilia A is caused by an inherited or acquired genetic mutation or an acquired factor VIII inhibitor. The defect results in the insufficient generation of thrombin by the FIXa and FVIIIa complex by means of the intrinsic pathway of the coagulation cascade. This mechanism, in

combination with the effect of the tissue-factor pathway inhibitor, creates an extraordinary tendency for spontaneous bleeding. This disorder is inherited in an X-linked recessive pattern. The gene for FVIII is located on the long arm of the X chromosome in band q28. The factor VIII gene is one of the largest genes; it is 186 kilobases (kb) long and has a 9-kb coding region that contains 26 exons. The mature protein contains 2332 amino acids and has a molecular weight of 300 kd. It includes 3 A domains, 1 B domain, and 2 C domains. Multiple mutations have been identified leading to hemophilia A. These include frameshift mutations, missense mutations, nonsense mutations, gene inversions, large deletions and splicing errors. Inheritance of Hemophilia A Sex is determined by sex chromosomes. Females have XX

chromosomes, and males have XY sex chromosomes. Scientists have discovered that the X chromosome carries many more genes than the Y chromosome and the Y chromosome is very small. Hemophilia in humans is a classic example of Mendelian trait that resides on the X chromosome. Hemophilia affects mostly males, because it is an X-linked recessive disease. Although it is possible for a female to get the disease, both of her
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parents would have to either have the disease or her dad have the disease and her mom be a carrier. The Hemophilia gene is carried on the X chromosome, so females with two X chromosomes can be heterozygous carriers and not have the disease. Men, however, only have one X chromosome, so they will inherit the disease with only one hemophilia gene on the X chromosome because they dont have a second healthy, normal allele. A heterozygous mother who carries the hemophilia gene will pass allele for the disease on to her son 50% of the time and her daughter 50% of the time. An infected father can never pass the disease to his sons because he only gives his sons a Y chromosome. On the contrary, an infected father will always pass the disease onto his daughters, making them carriers. Below are two examples of how the hemophilia gene is inherited. Inheritance Pattern for HemophiliaExample 1

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In example 1, the father doesn't have hemophilia (that is, he has two normal chromosomesX and Y). The mother is a carrier of hemophilia (that is, she has one faulty X chromosome and one normal X chromosome). Each daughter has a 50 percent chance of inheriting the faulty gene from her mother and being a carrier. Each son has a 50 percent chance of inheriting the faulty gene from his mother and having hemophilia (National Heart, Lung, and Blood Institute, 2011). Inheritance Pattern for HemophiliaExample 2

In this example, the father has hemophilia (that is, his X chromosome is faulty). The mother isn't a hemophilia carrier (that is, she has two normal X chromosomes). Each daughter will inherit the faulty gene from her father and be a carrier. None of the sons will inherit the faulty gene from their father; thus, none will have hemophilia.
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Females who are hemophilia carriers usually have enough clotting factors from their one normal X chromosome to prevent serious bleeding problems. However, up to 50 percent of carriers may have an increased risk of bleeding. Very rarely, a girl is born with hemophilia. This can happen if her father has hemophilia and her mother is a carrier. Some males who have the disorder are born to mothers who aren't carriers. In these cases, a mutation (random change) occurs in the gene as it is passed to the child (National Heart, Lung, and Blood Institute, 2011).

Clinical Features of Hemophilia A The frequency and severity of the bleeding in hemophilia A patients is inversely correlated to the level of residual factor VIII protein circulating in the blood. The weight bearing joints are the ones most affected in the disease and include the hips, knees, ankles and elbows. If the bleeding in the joints is left untreated it will lead to severe swelling and pain, joint stiffness and inflammation. Blood in the synovial fluid of the joints is highly irritating causing synovial overgrowth and a tendency to cause additional bleeding from the vascular tissues of the joint. The bleeding results in the deposition of iron in chondrocytes with the consequences being the development of degenerative arthritis. Muscle bleeding, like joint bleeding, is most prevalent in large load-bearing muscle groups such as in the thigh, calf, buttocks and posterior abdominal wall.

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The major signs and symptoms of hemophilia are excessive bleeding and easy bruising. Excessive Bleeding The extent of bleeding depends on how severe the hemophilia is. Approximately 30-50% of patients with severe hemophilia present with manifestations of neonatal bleeding (eg, after circumcision). Approximately 1-2% of neonates have intracranial hemorrhage. Other neonates may present with severe hematoma and prolonged bleeding from the cord or umbilical area. Children who have mild hemophilia may not have signs unless they have excessive bleeding from a dental procedure, an accident, or surgery. Males who have severe hemophilia may bleed heavily after circumcision. Bleeding can occur on the body's surface (external bleeding) or inside the body (internal bleeding). Signs of external bleeding may include:

Bleeding in the mouth from a cut or bite or from cutting or losing a tooth

Nosebleeds for no obvious reason Heavy bleeding from a minor cut Bleeding from a cut that resumes after stopping for a short time

Signs of internal bleeding may include:

Blood in the urine (from bleeding in the kidneys or bladder) Blood in the stool (from bleeding in the intestines or stomach)
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Large bruises (from bleeding into the large muscles of the body)

Bleeding in the Joints Bleeding in the knees, elbows, or other joints is another common form of internal bleeding in people who have hemophilia. This bleeding can occur without obvious injury. At first, the bleeding causes tightness in the joint with no real pain or any visible signs of bleeding. The joint then becomes swollen, hot to touch, and painful to bend. Swelling continues as bleeding continues. Eventually, movement in the joint is temporarily lost. Pain can be severe. Joint bleeding that isn't treated quickly can damage the joint. Bleeding in the Brain Internal bleeding in the brain is a very serious complication of hemophilia. It can happen after a simple bump on the head or a more serious injury. The signs and symptoms of bleeding in the brain include:

Long-lasting, painful headaches or neck pain or stiffness Repeated vomiting Sleepiness or changes in behavior Sudden weakness or clumsiness of the arms or legs or problems walking

Double vision Convulsions or seizures

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The

primary

signs

and

symptoms

of

hemophilia

are

excessive/prolonged bleeding and easy bruising. In general, musculoskeletal bleeding is the hallmark of hemophilia. The extent of these symptoms depends on the type of hemophilia and the severity of the underlying deficiency. Common symptoms of hemophilia include the following:

Joint bleeding or hemarthrosis Soft tissue bleeding or development of hematoma after minor trauma Bleeding after circumcision Easy or excessive bruising Prolonged bleeding after oral injury Bleeding associated with surgery or invasive procedures

Bleeding into the joints Spontaneous or trauma-induced bleeding into the joints (hemarthrosis) is the primary cause of chronic pain and disability among individuals with severe hemophilia. Chronic bleeding into the joints disrupts the joint lining (synovium) and causes joint damage, resulting in the painful arthritic condition known as hemophilic arthropathy. Bleeding most commonly occurs in the knees, elbows, ankles, and hips; but can occur in any joint. While joint bleeding can occur in all severities of hemophilia, spontaneous joint bleeding tends to be most common in individuals with severe hemophilia. In individuals with moderate and especially with mild hemophilia, trauma or injury usually initiates joint bleeding.
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Symptoms of joint bleeding are not always immediately apparent. The initial symptom is often tingling or tightness in the joint with no real pain or visible signs of bleeding. As bleeding continues, the joint becomes swollen, warm to touch, and painful to move. Swelling increases as bleeding continues and movement can be temporarily lost. Pain can be severe. Joint bleeding must be treated quickly and aggressively to prevent permanent joint damage. Untreated joint bleeding can be debilitating, as chronic pain, swelling, and permanent joint damage lead to limited mobility and decreased quality of life. Bleeding in soft tissue Soft tissue (muscular) bleeding, such as in the iliopsoas muscle, can cause severe anemia such and as hemodynamic the forearm instability. or lower Bleeding extremity within can

compartments

cause compartment syndrome. These patients present with significant neurovascular compromise and symptoms of pain, tingling, numbness or paresthesis. Compartment syndrome requires immediate specific treatment with hemostatic agents and consideration of decompression of neurovascular structures. Bleeding in the central nervous system Bleeding in the central nervous system causes significant morbidity and mortality in patients with hemophilia. These patients can present with the following symptoms:

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Head headache, neck pain, sleepiness, sensitivity to light, nausea, vomiting, loss of consciousness or seizures.

Spinal cord weakness, tingling, or pain in the arms or legs; difficulty with urination or bowel movements, back pain, loss of movement.

Bleeding in the gastrointestinal tract Individuals with hemophilia may experience gastrointestinal bleeding with bloody emesis or lower intestinal bleeding such as hematochezia. These bleeding events could be due to bleeding ulcers or bleeding from a diverticulum. Depending on the site of bleeding, the manifestations of gastrointestinal bleeding may range from fresh or brown-colored emesis to black and tarry stools. Life-threatening bleeding events in patients with hemophilia Rarely patients can have bleeding within vital internal organs or structures. These are often life-threatening bleeding events. 1. Bleeding into the central nervous system 2. Bleeding within vital structures such as head, neck, or intrathoracic region 3. Bleeding within internal organs such as liver and spleen 4. Bleeding in a large muscle group, such as iliopsoas 5. Gastrointestinal bleeding Diagnostic Procedures If a bleeding problem is suspected, the following tests from a single blood sample will help diagnose hemophilia, its type, and its severity:
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Complete Blood Count (CBC) measures the amount of hemoglobin (the red pigment inside red blood cells that carries oxygen), the size and number of red blood cells and numbers of different types of white blood cells and platelets found in blood. The CBC is normal in people with hemophilia. However, if a person with hemophilia has unusually heavy bleeding or bleeds for a long time, the hemoglobin and the red blood cell count can be low (World Federation of Hemophilia, 2012).

Prothrombin time (PT) measures certain clotting factors other than those related to hemophilia. Most people with hemophilia have normal results from this test. PT results may be abnormal if another condition is causing bleeding problems (Web MD, 2009).

Activated partial thromboplastin time (aPTT) measures clotting factors VIII or IX that are absent or not working properly in people with hemophilia. If aPTT is elevated, it may indicate hemophilia. But this test cannot determine which type of hemophilia (A or B) is present or even if the defect is in factor VIII or IX. A person with hemophilia usually has abnormal aPTT test results (Web MD, 2009). Laboratory Results in Hemophilia A PT APTT Bleeding Time Platelet count Factor VIII: C Assay Normal Abnormal Normal Normal Abnormal
31

Mixing tests mix the plasma of the patient with normal plasma to see if it reaches a normal level of clotting factor. If the plasma doesn't reach a normal level, it may mean that blood has developed inhibitors that are interfering with clotting factor VIII or IX. If this occurs, it may mean that having a very rare condition called acquired hemophilia (Web MD, 2009).

Amniocentesis and chorionic villus sampling (CVS) to test the fetus for the genetic defect that causes hemophilia during pregnancy. If the fetus is found to have hemophilia, the mother may choose whether to complete or terminate the pregnancy. With modern therapies and by being as careful as possible to prevent bleeding, people with hemophilia can expect to live a normal life span. A child can be tested for hemophilia A after birth with a sample of blood that is taken from the umbilical cord. Testing for hemophilia B in newborns is not effective because newborns naturally have lower levels of clotting factor IX. Blood tests for clotting factor IX deficiency are more effective after a child is 6 months old (Web MD, 2009).

Clotting factor tests, also called factor assays, are required to diagnose a bleeding disorder. This blood test shows the type of hemophilia and the severity. The severity describes how serious a problem is. The level of severity depends on the amount of clotting factor that is missing from a persons blood (World Federation of Hemophilia, 2012).

Treatment Options
32

Prevention Hemophilia cannot be cured, however, patients who start prophylaxis early (mean age of 3 years) show a better muscuoloskeletal outcome and fewer joint bleeds. People with hemophilia should take the following precautions:

Avoid

taking

aspirin

and

nonsteroidal

anti-inflammatory

drugs

(NSAIDs).

Get vaccinated (including infants) with the hepatitis B vaccine. Administer factor VIII on a regular basis, to help prevent bleeding and joint damage.

Avoid circumcising male infants of women known to be carriers until the baby has been tested for hemophilia.

Carry information at all times identifying the person as someone with hemophilia.

Treatment Plan The primary treatment for moderate-to-severe hemophilia is factor replacement therapy, which replaces the blood's deficient clotting factor. Regular infusions of clotting factor several times a week reduces the risk of bleeding. If internal bleeding has damaged joints, physical therapy or, in severe cases, joint replacement may restore function. Drug Therapies A health care provider may prescribe the following medications:

Factor VIII or IX replacement therapy

33

General Guidelines for Factor Replacement for the Treatment of Bleeding in Hemophilia Factor level Desire d, % 20-50 40 20-40 30-40 40-60 50-80 40 40 60-80 50 FVIII Dose, IU/kg* 10-25 20 10-20 15-20 20-30 25-40 20 20 30-40 25

Indication or Site of Bleeding Severe epistaxis; mouth, lip, tongue, or dental work Joint (hip or groin) Soft tissue or muscle Muscle (calf and forearm) Muscle deep (thigh, hip, iliopsoas) Neck or throat Hematuria Laceration GI or retroperitoneal bleeding Head trauma (no evidence of CNS bleeding) Head trauma (probable or definite CNS bleeding, eg, headache, vomiting, neurologic signs) Trauma with bleeding, surgery

Comment Consider aminocaproic acid (Amicar), 1-2 d Repeat transfusion in 24-48 h No therapy if site small and not enlarging (transfuse if enlarging) None Transfuse, repeat at 24 h, then as needed None Transfuse to 40% then rest and hydration Transfuse until wound healed None None Maintain peak and trough factor levels at 100% and 50% for 14 d if CNS bleeding documented 10-14 d

100

50

80-100

50

Pain relievers other than aspirin or NSAIDs (Aleve, Motrin, ibuprofen), as they decrease the blood's ability to clot

Topical medications to control bleeding

34

The drug desmopressin (DDAVP) may be used in mild cases of hemophilia A to stimulate low levels of clotting factor

Somatic gene cell therapy

Surgical and Other Procedures Certain types of surgery may become necessary, including:

Joint replacement Removal of an uncontrollable, expanding hematoma (partially clotted blood under the skin that resembles a bruise)

Nutrition No studies have examined the link between nutrition and hemophilia. However, avoid vitamin E and fish oil supplements as they seem to increase bleeding time by keeping platelets from clumping. Vitamin K plays a role in normal clotting and may be useful either from dietary sources or in supplement form, but research is needed in this area. Do not take vitamin K supplements without prescription. Herbs No studies have examined the value of herbs for hemophilia specifically, and haemophiliacs should never use herbal therapies without doctor's supervision. However, based on their own experience, health care providers may recommend the following herbs to strengthen blood vessels and act as astringents (causing contraction) to make bleeding less severe. In addition, people with hemophilia should avoid the following herbs, which tend to make bleeding more severe:
35

Ginkgo (Ginkgo biloba) Garlic (Allium sativum) Ginger (Zingiber officinale) Ginseng (Panax spp.) Horse chestnut (Aesculus hippocastanum) Turmeric (Curcuma longa) White Willow (Salix alba)

Since herbs can affect clotting in one way or another, people with hemophilia should take herbs only under a doctor's supervision. Homeopathy Few studies have examined the effectiveness of specific homeopathic remedies. However, several case reports found that the following remedies were helpful for people with hemophilia and even reduced their need for blood clotting substances like factor VIII. Before prescribing a remedy, homeopaths take into account a person's constitutional type the physical, emotional, and intellectual makeup. An experienced homeopath assesses all of these factors, as well as any current symptoms when determining the most appropriate remedy for a particular person.

Arnica -- for internal or external bleeding immediately following an injury. It is helpful for shock or trauma.

Carbo vegetabilis -- for people with pale skin and weakness who are extremely frail, even listless, but like cold and fresh air.

36

Crotalus horridus -- used when there is bleeding into the muscles and when blood appears thin and dark. This remedy is most appropriate for people who are tall, thin, and pale and have diarrhea and an aversion to warm food and drink, or may have fears of being alone and death.

Hamamelis -- for bleeding from a cut or wound, especially useful in nosebleeds, hemorrhoids, and broken blood vessels in the eye.

Lachesis -- for heavy bleeding that is dark in color, especially in redheaded individuals who are jealous and depressed.

Millefolium -- for internal or external wounds with significant bleeding and poor clotting.

Phosphorus -- for frequent, heavy bleeding. This remedy is most appropriate for people who have cold sweats and desire to drink alcoholic beverages. The person may also feel as though clothing aggravates the throat.

Secale -- for bleeding that is worsened by heat and lessened by cold.

Physical Medicine Regular exercise can build strong muscles and help prevent joint problems. People with hemophilia can exercise safely, although they should avoid contact sports. Physical therapy may also play an important role in reducing joint problems caused by repeated bleeding in those areas. Hemophiliacs physical therapist may recommend the following exercises:

Stretching
37

Movement exercises Resistance training (such as weight lifting)

Emerging therapy Scientists are optimistic about the future of gene therapy as a cure. Gene replacement therapy seeks to replace the defective gene with a normal, healthy one. Gene therapy might be able to cure an individual; however, the defective gene would still be passed on to his descendants. Gene therapy is still being tested for long-term side effects, but scientists hope that in the near future gene replacement will be available for the public (NCBI, 2004). Germline therapy is the correcting of all diseased cells, including reproductive ones, which would eradicate the disease completely. Germline therapy would have to be preformed at the embryonic stage of birth, and too many ethical questions exist at this time to begin testing on humans (National Hemophilia Foundation, 2004). Complications Complications may occur from the condition or from the treatment for the condition:

Deep

internal

bleeding. Hemophilia

may

cause

deep

muscle

bleeding that leads to swelling of a limb. The swelling may press on nerves and lead to numbness or pain. This may result in a reluctance to use that limb.

Damage to joints. Internal bleeding may also put pressure on and damage joints. Pain sometimes may be severe, and hemophiliacs may
38

be reluctant to use a limb or move a joint. If bleeding occurs frequently and hemophiliacs don't receive adequate treatment, the irritation may lead to destruction of the joint or the development of arthritis.

Infection. People with hemophilia are more likely to receive blood transfusions and are at greater risk of receiving contaminated blood products. Until the mid-1980s, it was more likely for people with hemophilia to become infected with the human immunodeficiency virus (HIV) or with hepatitis through contaminated blood products. Since then, blood products are much safer because of steps taken to screen the supply of donated blood. The risk of infection through blood products also has decreased substantially since the introduction of genetically engineered clotting products called recombinant factors, which are free of infection. However, it's still possible for people who rely on blood products to contract diseases.

Adverse reaction to clotting factor treatment. In some people with hemophilia, the immune system sees these clotting factor treatments as foreign. When this happens, the immune system develops proteins that inactivate the clotting factors used to treat bleeding. Researchers are investigating treatments to dampen the immune system's response and allow continuing treatment with clotting factors.

Peripheral neuropathy, pain, paresthesia,a nd mucle atrophy due to bleeding near peripheral nerves
39

Ischemia and gangrene due to impaired blood flow through a major vessel distal to bleed

Decreased

tissue

perfusion

and

hypovolemic

shock

(shown

as

restlessness, anxiety, confusion, pallor, cool and clammy skin, chest pain, decreased urine output, hypotension, and tachycardia)

40

41

3.) Schematic Diagram of the Pathophysiology of Hemophilia A RISK FACTORS: Heredity Gender Autoimmune disorders Factor VIII deficiency Dysfunctional factor VIII Factor VIII inhibition
fibrin

level of prothrombin activator in the blood

thrombin

Dysfunctional clot formation

Bleeding
Outpouring of plasma and blood substances Activation of inflammatory response RUBOR TUMOR/swelling Nerve damage CALOR DOLOR LOSS OF FUNCTION

Decreased tissue perfusion

Restlessness Anxiety Confusion Pallor cool and clammy skin chest pain decreased urine output hypotension tachycardia

Decreased cardiac output

Decreased stroke volume

Decreased Venous return

Decreased blood volume

Ecchymosis /Hematoma

JOINTS Disruption of Synovium Joint damage Haemophilic arthropathy

HEAD
Decompression of Neurologic Structures

SPINAL CORD
Decompression of Neurologic Structures

SOFT TISSUE (MUSCULAR) BLEEDING

Accumulation of blood in compartments Elevated compartment pressure

Headache neck pain sleepiness sensitivity to light nausea vomiting

loss of consciousness

Weakness Tingling pain in the arms or legs difficulty with urination or bowel movements back pain

GIT RENAL Hematemesis Hematuria Hematochezia Melena

42
Decompression of Neurologic Structures

seizures

Tingling Numbness

References: Canadian Hemophilia Society.(2012). The symptoms of hemophilia.< http://www.hemophilia.ca/en/bleeding-disorders/hemophilia-a-andb/the-symptoms-of-hemophilia/#c174>. Accessed 2012 October 1. Genetics Home Reference.(2012). Hemophilia.< http://ghr.nlm.nih.gov/condition/hemophilia >. Accessed 2012 October 2. Indiana Hemophilia and Thrombosis Center.(2012).Hemophilia A and B.< http://www.ihtc.org/medical-professionals/blood-disorders/bleedingdisorders/hemophilia-a-and-b/#diagnosis>Accessed 2012 October 2. Moake, J.,MD .(2009).Hemophilia.The Merck Manual for Health Care Professionals.<http://www.merckmanuals.com/professional/hematolog y_and_oncology/coagulation_disorders/hemophilia.html>Accessed 2012 October 2. National Heart, Lung, and Blood Institute.(2011). What Causes Hemophilia?.< http://www.nhlbi.nih.gov/health/healthtopics/topics/hemophilia/causes.html>.Accessed 2012 October 2. National Hemophilia Foundation.(2006).History of bleeding disorders.< http://www.hemophilia.org/NHFWeb/MainPgs/MainNHF.aspx? menuid=178&contentid=6&rptname=bleeding>. Accessed 2012 October 1. Zaiden, R. MD, et. al(July 12, 2012).Hemophilia a.Medscape.< http://emedicine.medscape.com/article/779322-overview#showall>. Accessed 2012 October 4. Web MD.(2009). Hemophilia-exams and tests.< http://www.webmd.com/a-toz-guides/hemophilia-exams-and-tests> Accessed 2012 October 1. Wikipedia.(2012).Haemophilia.<http://en.wikipedia.org/wiki/Haemophilia>. Accessed 2012 October 1. World Federation of Hemophilia.(2012).How do you get hemophilia?.<http://www.wfh.org/en/page.aspx?pid=644>. Accessed 2012 October 2. World Federation of Hemophilia.(2012).Severity of hemophilia.< http://www.wfh.org/en/page.aspx?pid=643> Accessed 2012 October 1.

29

30

FAMILY BACKGROUND

FAMILY MEMBER

SEX

AGE

CIVIL STATU S Married

RELATIONSHI P TO THE CLIENT Grandfather

EDUCATIONA L ATTAINMENT High School Graduate High School Graduate High School Graduate High School Level 4th year Elementary Level 4th grade ------

OOCUPATIO N

RELIGION

RESIDENCE

Manayon Reyes

61

Farmer

Aglipayan

#10, Parparuroc, Vintar, Ilocos Norte #10, Parparuroc, Vintar, Ilocos Norte #10, Parparuroc, Vintar, Ilocos Norte Bacarra, Ilocos Norte #10, Parparuroc, Vintar, Ilocos Norte

Sanita Reyes

56

Married

Grandmother

Vendor

Aglipayan

Reynante Reyes Lerma Laman

37

Single

Father

None

Aglipayan

34

Single

Mother

None

Aglipayan

John Reynon Reyes

10

Single

Patient

None

Aglipayan

Christian Reyes

Decease d

Single

Brother

----

Aglipayan

----

29

The patient belongs to an extended type of family consisting of a grandfather, a grandmother and a grandchild in one house. The patient is under the care of his grandparents (father side) because his parents are separated and have their own families now. The patients father is currently living at Brgy. Parparuroc, Vintar, Ilocos Norte where the patient also resides. He has 2 half-siblings: a girl and a boy. On the other side, his mother lives with her new husband at Bacarra, Ilocos Norte and has a male child. Mr. Manayon, the grandfather of the patient, is a 61 year-old high school graduate and is the head of the family. He raises his family through farming. Mrs. Sanita, 56 years old, is the wife of the head of the family and the grandmother of our patient. She sells vegetables in the morning and banana cue and other food in the afternoon. She uses their bicycle to go house-to-house and sell those. She claimed that there is a beneficial effect of being an extended family with only 3 members because they do not worry too much on their daily expenses. According to her, their daily needs are being fully met because of their family size. The form of their family based on descent is patrilineal since they are affiliated with their fathers relatives. Likewise, based on residence, their family is considered to be patrilocal since they are currently living at #10 Parparuroc, Vintar, Ilocos Norte where his fathers family and relatives live. The form of their family based on authority is egalitarian since the authority is vested to both the grandparents. However, if there are some points where Mr. Manayon is at the field and certain decisions are to be made, Mrs. Sanita is the one to decide and
30

likewise; if Mrs. Sanita is not at their home and decisions are to be made, only Mr. Manayon decides. When it comes to decision making, both grandparents are involved. Both the grandparents take the responsibility in allocating their daily budget may it be for their food, the patients school-related expenditures and others. When it comes to health aspect, Mrs. Sanita is always the one who opts to seek for consultation especially when it comes to the patients condition. In line with this, the grandparents usually do not spend money because their family had been chosen as one of the members of the governments project, PhilHealth. The grandparents have no vices. Mr. Manayon usually spends his time in the field while Mrs. Sanita spends some of her time selling vegetables and other food for snacks. Afterwards, she just stays at home, cleaning, doing the household chores and taking care of her grandson at times. The family has a good relationship towards one another. At times, our patient is hard-headed and naughty but the couple just ignores this attitude of him. The patient apologizes whenever he commits mistake and in return, the couple forgives him immediately. The couple shows affection towards their grandson. They always assure that everything their grandson wants will be granted. They often use Iloko as their form of communication.

31

SOCIO ECONOMIC STATUS The family monthly expenses are summed up to Php. 2, 900.00

ALLOCATION OF INCOME Food: Education: Allowance and School Contributions Electric Bill: Transportation: Groceries: Coffee and other condiments Miscellaneous: Php. Php. 150.00 150.00 Php. Php. Php. 750.00 600.00 250.00 Php. 1,000.00

TOTAL: Php. 2, 900.00

32

Farming: (Fertilizer, Labour, Seedlings)

Php. 4,000.00 (per cropping season)

The monthly income of the family is Php. 3, 500. The main source of the familys income comes from Mrs. Sanitas wage. She earns a salary of Php. 2, 000.00 a month from selling vegetables and food for snacks. At present Mr. Manayon monitors a 1000 m2 field which they usually plant palay during rainy season. Mr. Manayon said that they usually yield 10-12 sacks of unmilled whole grains of rice. From these 10-12 sacks, about 6-7 sacks are being sold by the couples in the market for less than Php.600.00/sack or a total of Php.4, 000 and the remaining 5 sacks are being kept by the couple for their daily consumption. The Php. 4,000 is being used for the fertilizer, labour and seedlings. During dry season, they plant tomatoes and any other vegetables. Mrs. Sanita goes house-to-house and sells the harvested tomatoes and other vegetables. At times, she harvests banana at their backyard and sells it to their neighbour. In addition to the Php.2, 000 income of Mrs. Sanita, their daughter, Ms. Mary Anne supplies them with their necessities and even gives them Php. 1000 a month. Also, Mr. Manayons brother also adds to the income of their family. He gives them Php. 500 a month. This makes their total income of Php. 3, 500.00. From, Mrs. Sanitas monthly income of Php.2,000 and the support they receive from their relatives, Php. 500 from Mr. Manayons brother and Php. 1000 from Ms. Mary Anne, their daughter; summing their monthly income to Php. 3500.00. The Php. 1, 500.00 given by the relatives is being utilized for their foods, for the patients education and a portion of this are being used for the familys miscellaneous. The family usually spends a total of Php.2, 900.00 thus, their net income is Php 600.00.

33

In the farm crops (tomatoes, palay), the family gains Php. 5,000 but they also spend Php. 4, 000 for fertilizers, labor per cropping season. Thus, their net income is (Php.166-167/month) Php. 1,000 in 6 months or per cropping season. Both the grandparents take charge in allocating their budget. But when it comes to their food budget, Mrs. Sanita takes a bigger responsibility on this. She is also the one who buys their food. She usually goes to market twice a week with a budget of Php125.00/market day and a total of Php. 1000 in a month. With a Php125.00 budget, Mrs. Sanita buys a half kilo of fish, usually tilapia, if not, a half kilo of pork or chicken. She always buys at least kilo of hotdog for his grandson. They do not buy vegetables because they have plenty at their backyard. In addition, the couple only sets Php 150 a month from their income for their groceries because their daughter is the one who supplies them with their necessities. However, at times, they have supply shortage and so they buy grocery items at the store near their house. Also, Php. 250 is allotted for their travel expenses. The family has a motorcycle and is only used by the family. Mr. Manayon uses their motorcycle daily to send and fetch their grandchild to and from his school which is 200m away from their house. Also, when Mr. Manayon is not busy in the farm, he accompanies his wife in buying their food in the market. According to Mrs. Sanita, they would spend about Php 60-70 weekly for their motorcycles gasoline. The grandparents allot a big amount from their income for their grandsons education expenses including his allowance, contributions at school and the likes, amounting to Php 750 a month. Our patient, being at the 4th grade now has a daily allowance of Php. 20 30.00. He has a

34

stable school contribution of Php. 75.00 for the schools electric bill, the payment of their janitor and the like. Among the family members, 2 of them have cellular phones: Mrs. Santa and the patient, John. The couple usually spends nothing for their load because it is being supplied by Ms. Mary Ann, the daughter of the couple. The cellular phones serve as their means of communication like for example, when our patients class is about to end, he would text his grandmother to fetch him up. Also, the family spends Php. 600 for their electric bill. They own 1 television which is being used by the family members at times as their form of relaxation. They also have a DVD player which is infrequently used. Two stand fans are owned by the family and most of the time, these are being utilized by the family members. 8 light bulbs, one at their kitchen, 1 bulb each in their 2 bedrooms, 1 at the receiving area, 1 in front of their house, 1 at their CR, 2 at the back of their house. Among these bulbs, only 3 (CR, receiving area and in front of their house) are frequently being used. Ms. Mary Anne is the one who buys and provides the grandparents with LPG tank which costs Php.740.00 for cooking purposes. According to Mrs. Sanita, it usually lasts for 6 months because she seldom use it. She only uses it for emergency cases. She prefers to use charcoals or wood taken at the mountain. Ms. Mary Anne also supplies the patient with his clothing. She also provides and buys the vitamins of the patient. For the grandfathers multivitamins, it is being supplied by their abalayan.

35

When it comes to their water/drinking expenditures, they do not spend even a single penny for this. They own a water pump which is being utilized by the family for bathing, drinking and cooking. Whenever our patient seeks for consultation or when he is hospitalized, their expenses are being handed to the government through the PhilHealth. For the blood transfusion and other interventions not being handed by the PhilHealth, Ms. Mary Anne takes charge of the hospital expenses and sometimes, Eddison also contributes for the payment of the patients hospital bills.

36

GENOGRAM

Manayon, 61

Sanita, 56

Isabel, 54

Robert, Leukemia

Eddison, 39 ?

Mary Anne, 38

Reynante, 37

Lerma, 34

?, Hematoma

John Reynon, 10

Christian Male Hemophilia Female Deceases

LEGEND: - Possible Patient

- Hemophilia

37

Separated

- Not Known

38

D. HEALTH HISTORY

FAMILY HEALTH HISTORY Common illnesses were experienced by all, if not, some of the family members. The family experienced having cough, colds, fever and headache throughout their lives which lasted for 2-3 days. Some of the family members like Mr. Reynante and Ms. Mary Anne had chicken pox during their elementary days. It was managed through staying at home and having adequate rest. And after all the blisters had appeared in their skin surfaces, Mrs. Sanita would make them an arabu-uban of onion peelings every afternoon. They just have to wait until the blistersre gone. According to Mrs. Sanita, it lasted for 7-10 days. Measles was experienced by the family as well; it was treated through wearing of black pants and long sleeves. Likewise, after all the blisters had appeared, Mrs. Sanita would make them an arabu-uban of onion peelings once a day. Her children experienced having this when they were in their teenage years. She also believed in the actions of akot-akot when her children had mumps. The akot-akot is mixed with warm water and is applied to the affected area every time the akot-akot gets dry. It lasted for 3 days. She found this intervention effective. The family uses alternative managements for health care like the use of herbal medicines like decoction of oregano for cough. The oregano decoction is being drunk by the family member twice a day, once in the morning and one at night with 1-2 tablespoons. The sick family member also
39

takes OTC drugs like Robitussin 1 capsule once a day. They also use and drink a half-glass of calamansi juice mixed with water and added with 1-2 teaspoons of sugar whenever they have colds and OTC drugs as well like Neozep 1 tablet, thrice a day. Whenever a family member experiences such, TSB is also being performed by the family. In addition, Paracetamol 1 tablet, once a day for fever. They also consult quack doctors as verbalized by Mrs. Sanita, Wen mamati kami met iti albularyo. Whenever a member of the family experiences fever, severe headache and the likes, they would consult the quack doctor and they would be informed that a family member had been played by a bad spirit. Mrs. Sanita believes in talado. In the patients father side, no known hereditary diseases run in their family. The patients grandfather, Mr. Manayon claimed that he had never been hospitalized. He assumes that he has hypertension because he experiences nape pain and headache some times. However, he has not been diagnosed of hypertension. He started taking in centrum multivitamins when he was 40 years old and still continues as of the moment. He takes in 1 tablet once a day in the morning. Mrs. Sanita, the patients grandmother claims that she has arthritis. She frequently experiences pain in her knees and back when she stands for a couple of hours and even minutes. She manages this by taking periods of rest, remains seated and temporarily stops her activities/work. She does not take any medication to relieve the pain. Like her husband, she also sometimes experiences nape pain and headache. She also claims that she has hypertension. Mr. Manayon and Mrs.
40

Sanita have 3 children: 2 males namely Eddison & Reynante and 1 female, Ms. Mary Anne. According to Mrs. Sanita, their 3 children had never been hospitalized except for their youngest Mr. Reynante, the father of the patient. He was once rushed to Gov. Roque Ablan Memoral Hospital on 2002 because of vehicular accident. While he was driving his tricycle going home from Laoag, he lost his control and fell. He had wound all over his face and lower extremities. He stayed at the said institution for 1 week and was given various medications but Mrs. Sanita could not remember those. Mrs. Sanita claimed that she and her husband were not vaccinated since some vaccinations were not yet available during their times. But she claimed that their children received some of the vaccinations rendered by the RHU but cannot recall any of these. On the other hand, the patients mother side is believed to have hereditary diseases. Only little information was gathered because the patients mother is no longer living with the patient. Mr. Robert, the patients grandfather died because of leukemia. When asked about when and how he had the said disease, no information was gathered because Mr. Sanita only knows little of his sons ex-wifes family history. Mrs. Isabel, the grandmother is believed to have Hemophilia. According to Mrs. Sanita, when her abalayan visited Ilocos in the year 2001, she noticed that Mrs. Isabel prefers to remain seated because she easily gets tired when walking and she frequently experienced having hematomas over her body. Mr. Robert and Mrs. Isabel
41

have 5 children: 4 females and 1 male. Mrs. Lerma, the eldest child and the mother of the patient is thought to have haemophilia because she also experiences easy fatigability and hematomas over her body. She was also informed by Dr. Rosario, the physician at RMH that she should not get pregnant and bear a child because there is a great chance that the child would also have haemophilia. The sibling next to her, died at the age of 4 because of hematomas characterized as multiple in quantity, purplish and are big in quality. Mrs. Sanita is not sure if the 3 remaining children of the couple have Hemophilia as well but she claimed that the children bore by them died when they were still young. Mr. Reynante and Mrs. Lerma have 2 male children namely John and Christian. Christian, the younger of the 2 died last April 20, 2012 at the age of 9. He was stumbled and his head was the primary part of his body that was involved. He was rushed to MMMH & MC and certain procedures had been performed but he died the same day he was admitted. According to Mrs. Sanita, her younger grandson probably had hemophilia as well because she noticed the same manifestations John experiences. The family usually eats 3 times a day: for breakfast, anytime of the day from 6-8 am; for their lunch, 11-12 NN and for their dinner, at most 7 pm. The family eats a variety of foods every day including meat products, fish, canned goods, processed foods and vegetables. The family usually has snacks in the morning and one in the afternoon. They usually eat biscuits
42

and fruit juices provided by Mr. Mary Anne, if not, they buy at the nearby store. Sometimes, they also drink soft drinks. . When asked about their food preferences, Mrs. Sanita said that they are not choosy when it comes to food. Fried, broiled, boiled, sauted, scrambled are the ways they want their food to be prepared. They eat vegetables, may it be raw or not. According to her, the family members are allergy-free to anything, may it be food or not. The family takes a bath every day and brushes their teeth at least once a day. They use any brand of shampoo, soap and tooth paste depending on what is available at the store near their house. They watch television as their form of recreation at noon and night time. The family usually sleeps between 8:00-9:00 pm and wakes up between 6:00-7:00 am during school days and weekends. PAST HEALTH HISTORY The patient had experienced common illnesses. When he was 8 years old, he experienced having chicken pox, which was manifested by itchiness, small blisters over his body and was minimal in quantity. It was also accompanied with low-grade fever. Because of these, his grandmother didnt allow him to attend his classes and just stayed inside their house for the entire course of the illness. He was not permitted to go to school unless all the blisters were dried and gone and his temperature subsided. It lasted for 6 days. Mrs. Sanita made him an arabu-uban of onion peelings every afternoon For his fever, it was managed by increasing his fluid intake, tepid
43

sponge bath and an over the counter drug: Paracetamol 1 tsp., 3 x a day for 2 days. These interventions were thought to be effective as per verbalized by his grandmother, Wen epektibo, anak ko. Malpas duwa nga aldaw ket nagawan met tay gurigur nan. At the age of 9, he had measles and it was characterized by small red dots on his skin surface which was managed by staying inside the house. Also, his grandmother prepared and made an arabu-uban of onion peelings 3 times a day to dry the rashes. On the 3rd day, the rashes subsided and peeling of his involved skin areas took place. After a day of having measles, he had a low-grade fever which lasted for 3 days. Like what his grandmother usually does when he experiences fever, it was managed with paracetamol (1 tsp., 3 x a day for 3 days) which was bought over the counter and tepid sponge bath. The patient experienced having fever, accompanied by cough and colds for couple of times in his entire life. For the 1st day, his grandmother would just increase his fluid intake and let him rest. When these interventions were already done and performed and the fever still persists, his grandmother usually sends him to a health care unit in their place for a check-up. Certain medications had been prescribed to our patient like Paracetamol 1tsp., taken 3 times a day. According to his grandmother, she accompanies the prescribed drug as her intervention with increasing fluid intake, bed rest and TSB.

44

As claimed by his grandmother, the patient received a complete immunization however his yellow card was not presented because it was kept by the patients mother. PRESENT HEALTH HISTORY When the patient was 9 months old, he experienced having hematomas in his chest and were later seen in other parts of his body with varying sizes were first observed as per verbalized by his grandmother, Nagpantal-pantal idi. Diay barukong na ti imuna. Tapos nu ana ti matiltil nga part ti bagi na, isu ti agpantal. Agawan, agadda. The hematomas were characterized as bluish-purplish and appeared intermittently. His

grandmother brought him to a quack doctor and they were informed that the occurrence of his hematomas was caused by the pinching of a ghost. The quack doctor advised his grandmother to make a coconut oil and apply it all over the patients affected body parts. The oil was applied into the patients body twice a day, one in the morning and one before bed time for a period of 7 days. The intervention proposed by the quack doctor was not effective as claimed by the grandmother because the hematomas did not disappear completely. Hence, the grandmother went to RHU Vintar to seek for consultation. Dr. Heidee Albano, the physician of the said health care unit, prescribed vitamins for the patient. The grandmother bought ceilin vitamins and started administering the vitamins to his grandson 1 tsp., once a day in the morning.
45

After 3 months of intermittent hematomas, the grandmother decided to bring the patient (1y/o) to a private pediatrician at Laoag named Dr. Crosses. The patient was examined but due to lack of sophisticated medical equipment (laboratory machines) in Ilocos, the patient was referred to Ramon Magsaysay Hospital in Manila by the doctor. On the following day, the patient together with his mother and grandmother went to RMH, Manila. Dr. Rosario, a physician at RMH, instructed them to have the laboratory test at National Kidney Institute. After the patient had undergone the laboratory test and was examined, they went back to RMH for the reading of the result. On January 2003, Dr. Rosario diagnosed the patient to have Hemophilia A. They were instructed to protect the child from injury; to provide the child with any food but not those which are hard and are difficult to chew and that the patient must use soft toothbrush. They were also instructed that the patient cannot undergo circumcision. The patients mother was also advised not to get pregnant anymore because of the possibility that their next child will also have Hemophilia. After they had been to RMH, they went back to Dr. Crosses Clinic to present the laboratory result and other medical results to her and were advised to continue administering vitamins to the patient. According to the grandmother, the patient started crawling when he was about 1 year old. He experienced having hematoma particularly in his knees. Like before, the hematomas were characterized as red purplish and were intermittent but they did not bring him to any health care facility. The patient began walking independently at the age of 1 year and 4 months.
46

The patient started using pacifier when he was 6 months old but when he was 1 year and 6 months old, he experienced bleeding in the anterior surface of his tongue because of his pacifier. He was not rushed to the hospital immediately because his grandparents believed that the bleeding would stop eventually. After 2 days of minimal bleeding, only then that his grandmother sent him to Gov. Roque Ablan Memorial Hospital and was misdiagnosed of pneumonia because our patient spat sputum with blood. When the grandmother informed Dr. Jimenez, the physician of the child, that our patient has hemophilia A, she was shocked and modified the diagnosis. Dr. Jimenez instructed the grandmother to apply his grandsons tongue with oral gel for 3 days. But even with the application of the oral gel, the bleeding did not stop completely so, they referred their grandson to Mariano Marcos Memorial Hospital & Medical Center for further interventions. On the first day of his confinement, he underwent CBC and Dr. Gapuzan, his physician, ordered him blood transfusion (50 U, platelet). Upon waiting for the ordered blood, he was instructed to have ice chips in his mouth to prevent severe bleeding. They had waited for 16 hours. He was confined at the hospital for 5 days. During the discharge, the grandmother was recommended to give propan vitamins, 1 tsp. 1 x a day to the patient. According to the grandmother, when the patient was 2 years old, he experienced having fever and colds. In addition, melena was noted as verbalized by the grandmother, idi aggurigor ken aguyek, nu tumakki ket nangisit, kasla dara.
47

During the 2005 New Year celebration in the morning, an incident had happened. When the patient was walking nearby their house, he accidentally stumbled while his torotot was on his mouth. He had reddish purplish hematomas in his lower extremities and had severe bleeding in his mouth because he hit his torotot. His grandmother sent him to MMMH & MC immediately. He had undergone CBC and was ordered with cryoprecipitate (BT: platelet, 6 U). He stayed at the said hospital for 3 4 days. After 3 months, he was again rushed to MMMH & MC because of gum bleeding. According to the grandmother, she always reminds his grandson not to eat anything that is hard and difficult to chew because it may injure his gums or even his tongue but one time, when the patients playmates climbed and brought him guava from their neighbor, the patient asked for one and ate it and he accidentally injured his gums and he bled. He was not immediately sent to the hospital because his grandparents thought that the bleeding would stop. Upon waking in the morning, his grandparents saw that our patients pillow was already soaked with blood so, they brought him to MMMH & MC and underwent CBC again and transfused with platelet, 5 U. He was confined at the hospital for 4 days. When he was 3 year olds, he was fond of playing outside their house. He spent his time playing with his neighbors, running around their place, playing hide and seek and etc. But one day, on the 29th day of May 2005, according to his grandmother, he complained of pain in his lower
48

extremities. His ankles were swelling. He felt weak after playing. He did not walk for 1 week and 3 days. He remained to be dependent on his grandparents. He let his grandparents give him everything he wanted. They did not consult any health care facility. They just assured the patient to rest. On the 3rd day of May 2006, while the patient was playing inside their house, he accidently stumbled and his nose hit the edge of their chair. He had bleeding but he was not rushed to a health care facility. His grandparents just waited until the bleeding stopped. On the 3rd day of the accident (bleeding, in minimal amount, was still present), the grandparents noticed that their grandsons nose puffed out and was inflamed but still they did not send him to the hospital. The patient had difficulty of breathing for 3 days and his left nose was obstructed because of blood clots as verbalized by the grandmother, nangisit nga dara. Only this time that the patients grandparents were alarmed of the worsening condition of the patient: The grandparents brought the patient to MMMH & MC for consultation. Like his previous managements, he again underwent CBC and Dr. Opilas ordered cryoprecipitate (BT: platelet, 5 U). He stayed at the hospital for 3 4 days. After an almost a week in the hospital, he then regained enough strength and felt better so on the following month he was sent by his grandmother to attend pre-school. On August 25 of the year 2007, the patient had ear bleeding. The grandmother said that the patient complained of itchiness in his both ears
49

and so she gave him soft cotton buds. As he was cleaning and relieving the itchiness of his ear, he accidentally injured his right ear which caused him to bleed again. His grandmother placed cotton to wipe and clean his injured ear. But since the bleeding did not completely stop, they brought him to MMMH & MC for further assessment. He had blood transfusion as ordered by Dr. Opilas (platelet, 4 U) and was prescribed with Agua Oxinada, 3 drops, 3 times a day for 7 days. He was confined for 3 4 days and was advised to have a follow-up check up on the 23rd of October, the same year. His grandmother claimed that on that day, the patient was okay. On November 17, 2007 our patient was again rushed to MMMH & MC because of gum bleeding. According to his grandmother, our patient asked for cornick from her but she refused to because she knew that it would cause him bleeding again. But because he went into temper tantrums, she bought him and gave him cornick. As expected by the grandmother, he bled. Dr. Ballesteros ordered him BT (platelet, 4 U). After 3-4 days of confinement, they were discharged. After he had been to the hospital for his BT, he continued his activities at home like playing and continued his schooling as a kindergarten. On the 25th of November 2008, the patient was admitted again at MMMH & MC due to gum bleeding, however, the grandmother forgot how and why his grandsons gums bled. He was accompanied by his grandmother and his father. The patient was transfused with 4 units of platelets. After 3
50

days of staying at the hospital, he was discharged. According to the grandmother, the patient attended his class the next school day after he was discharged. According to the grandmother, the patient experienced

exhaustion from walking to school which is approximately 200m away. In line with this, he complained of pain in his ankles and he was immobile for 2 weeks as per verbalized by the grandmother, nagpilay isuna ti dwa nga lawas and he was not subjected to a health care facility but his grandmother just let him rest. The patient had his 1st dose of Hepa-B on December 17, 2008 at Vintar Health Unit. According to the grandmother, she tried to ask the health provider who injected the vaccine to his grandson if she could use a smaller needle because it might cause his grandson to have severe bleeding but the health provider rejected the concern of the grandmother. Because of this, the injection site swelled which lasted for 2 days. On the same week, the patient was again unable to walk for a week and that he just stayed inside their house, either sitting or lying on his bed. He was not sent to a health care unit. His Hepa-B 2nd dose was given on the 21st of January 2009 at the same health care unit. Like his previous experience, he was immobile for 1 week and no management was done by his grandparents and was not rushed to a health care facility. On February 1st of the same year (2009), he was rushed and was admitted at MMMH & MC at exactly 3:00 in the afternoon because of severe
51

gum bleeding. According to the grandmother, he asked for a guava to eat but she refused to; but because our patient really wanted to eat one, he hid himself and ate a piece of guava at the back of their house. Because the guava was hard, his gums got injured and caused bleeding. On the first day of confinement, they were advised to wait for the units of blood for 16 hours and so the patient was just given ice chips to temporarily stop the bleeding. On the next day, February 2, he had 4 units of cryoprecipitate. And on the 3 rd day, another 4 units of cryoprecipitate were given. On the 4th day, the patient had allergic reaction to the blood that had been transfused to him and so it was immediately stopped by the nurse. He was monitored by the nurse and the allergic reaction was alleviated. The patient was discharged on 5th day. He did not attend his class the next day he was discharged because he was not permitted by his grandmother. He just stayed in their house and his actions were limited. A month after he had his 2nd dose of Hepa-B, he had his 3rd dose (February 18, 2009) at Vintar Health Unit. Like the previous one, he suffered from immobility. He was not subjected to a health care facility but instead, he was just in their house, either sitting or lying on his bed. He was lamed for 1 week and did not attend his classes. On the 25th of February 2009 at about 4:00 in the afternoon, he was again admitted at MMMH & MC because of severe gum bleeding. His lower incisor decayed (dental caries) which served as the source of his severe
52

bleeding. Dr. Opilas, his physician, ordered 2 units of Fresh Frozen Plasma and was given and administered at around 9:00 in the evening. Three units of cryoprecipitate were administered to the patient the next day in the morning. On the 27th, another 3 units of cryoprecipitate were given to the client, in the afternoon. Dr. Opilas ordered the patient to undergo 2 laboratory tests: aPTT and CBC. He had undergone aPTT first at around 4:00PM and CBC at 4:30PM. His intake and output was also monitored during his entire stay in the hospital because the patient was oliguric as claimed by the grandmother, bassit ti maiyisisibo na. haan pay makaisbo nu dadduma. The grandmother forgot if his grandson was prescribed with medication to normalize his urine output. At around 4PM on the 28 th, our patient was discharged. He continued attending his classes after 2 days of staying at their home. On the year 2010, the patient had been admitted at MMMH & MC for several times. On June 4 at night time, he had severe bleeding because he manually extracted his upper incisor. His grandparents did not bring him to the hospital immediately because they had no vehicle to send their grandson at MMMH & MC and it was night time. So his grandparents brought him to the hospital early in the morning. Again, Dr. Opilas ordered the patient to undergo blood transfusion. He received 4 units of cryoprecipitate. He was on intake and output monitoring because he was oliguric. Dr. Opilas ordered furosemide 10mg/ml IV for this. When the medication had taken effect, our patient excreted dark yellow-light yellow urine. On the 6th of June, he was
53

given 5 units of Fresh Frozen Plasma and furosemide 10mg/ml IV. He stayed at the hospital for 3 days. On the discharge day, June 7, his physician prescribed the patient with Tranexamic 500mg/cap, 1 cap every 8 hours. He was supposed to take the medication for 1 whole month but the patient only consumed 21 capsules (for about 1 week) because the patient got tired of taking the medication every day. On the 15th of June, the patient had his follow-up check-up and was prescribed with Tranexamin Acid 500mg/cap, 1 cap every 8 hours for 1 week (21 tablets). He was able to consume the prescribed # of capsules to take in. Also, during his follow up check-up, the grandmother was instructed to have the patient have aPTT, PT after 2 weeks in preparation for his dental extraction and was advised to give Tranexamic Acid 25mg/kg for 24 hours prior to extraction and 7-10 days after the procedure. The grandmother was advised to buy factor VIII at Philippine Children Medical Center in Manila but due to financial constraints, they were not able to have one and that the dental extraction was not performed to the patient. Since it was the start of his elementary school, he attended his classes at a public school nearest to their house. On July 16, 2010 at 8:00 in the evening, the patient was admitted at MMMH & MC, Batac due to gum bleeding and swelling of his feet. Dr. Ballesteros ordered the patient with Prednisone 1 tablet once a day, Tranexamic Acid 100mg/ml solution for IV every 8 hours. On the next day, July 17, he had undergone blood transfusion with 5 units of cryoprecipitate. On the 18th, he was given Tranexamic Acid IV twice. He was on Intake &
54

Output Monitoring during his entire stay in the hospital. He was administered with Furosemide 10mg/ml IV because the patient had urinated only small amount of urine. And on the 19th, he had 5 units of cryoprecipitate. On the 20th, he was still being monitored for his urine output. And on the 21 st, the patient went home. During his entire stay in the said institution, he was able to consume 3 tablets of Prednisone and 4 vials/bottles of Tranexamic Acid. When the patient had just came from the hospital, he would always want to go to school the soonest possible time but sometimes, his grandparents restrict him. On the 28th of September 2010 at 1:00PM, he was rushed at MMMH & MC because of gum bleeding; however, the grandmother forgot the cause of his grandsons bleeding. On the 1st day, he was already ordered to undergo BT; only on the next day that the 2 units of cryoprecipitate and 4 units of Fresh Frozen Plasma were given. On the 30th, our client was discharged and continued attending his classes and playing with his classmates and neighbors. About 5 weeks (December 11, 2010) after his most recent

confinement, he was again admitted at MMMH & MC because of gum bleeding. According to his grandmother, he ate cornick and his gums wound up and bled. On the 12th, he was given Tranxamic Acid IV once and was given 2 units of cryoprecipitate. On the 14th, he was given 3 units of cryoprecipitate. He was discharged on the 15th. On the 28th of December, the
55

same year at around 12NN, the patient was admitted at the same institution with a chief complaint of severe gum bleeding. He experienced bleeding again because of his decayed lower incisor (dental caries). He was immediately rushed by his grandparents. Only on the 29th when he received 3 units of cryoprecipitate. Likewise he also had undergone BT, 3 units on the 30th and another 3 units on the 31st. In addition, the patient had high-grade fever (39.1oC) and was given Paracetamol. After 30minutes of taking the medication, his body temperature subsided to 38.7oC then eventually to 38.1oC. He also had undergone CBC. He was also given Diphenyl Dramine HCl for allergic reaction as claimed by the grandmother and a suppository. When his body temperature was last checked in the evening, it was 37.7 oC and that they were allowed to go home and my patient was discharged. Despite his hospital confinement, the patient and his grandparents were able to celebrate New Years Eve at their home. On the 2nd day of January 2011, the patient together with his grandmother travelled to Manila for his factor 8 admin. They did not proceed to PCMC directly. They spent a week at his uncles. Only on January 11th that theyd proceeded. At the Philippine Childrens Medical Center, our patient had undergone CBC and the following are noted to be abnormal: Hematocrit decreased; Eosinophil increased. After the CBC result was taken and proper assessment was done, the patient was injected 2 vials of factor 8. After a day, they went back to Ilocos and our patient continued his going to school.
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March 2011, the patient together with his grandmother travelled again to Manila for his factor 8 administration. Like what they did before, they did not proceed to PCMC directly. They spent 3 days at his uncles place. On the 3rd day of their stay at Manila, they proceeded to PCMC. Like the previous routine, the patient had undergone CBC. After the CBC result was taken and proper assessment was done, the patient was injected 2 vials of factor 8. After a day, they went back to Ilocos and our patient continued his going to school. On April 15, 2011, the patient complained of swelling and pain in his right knee. He cannot walk as claimed by the grandmother. With these, his grandparents were alarmed and thus, brought him back to MMMH & MC. On the first day of his stay, the physician advised the grandmother to just wait for the ordered blood for 16 hours. On the 16 th, 3 units of cryoprecipitate were given to him. During the 2 succeeding days, the patient had not received blood transfusion, only on 19th that he had again. He was given another 3 units of cryoprecipitate. On the 21st at 10:00AM, the patient was supposed to receive cryoprecipitate; however, the nurse administered FFP. Great thing that the patients grandmother was observant enough that she noticed that the blood that had been transfused by the nurse was not the blood ordered and so the nurse immediately stopped the BT. With the incident that had happened, according to the grandmother, they had waited for another 16-20 hours before the cryoprecipitate was transfused and was given to the patient. Also, the patient was given with Paracetamol because
57

he had high-grade fever (39.0oC). After 15-20 minutes of taking the medication, the body temperature of the patient decreased to 38.4oC then to 38.0oC. On the 22nd, the patient took 2 tsps. of Paracetamol for his fever. The medication took effect for his body temperature had decreased to 37.6 oC then eventually reached a normal value of 36.6 oC when he was about to be discharged (April 23). After hospitalization, the patient was able to walk again but easily got tired. Because of frequent pain and swelling of his feet/knees, his grandparents bought him a saklay. April 2011, the patient travelled again to Manila with his grandmother for his factor 8 administration. Like what they did before, they did not proceed to PCMC directly. They spent 4-5 days at his uncles place. On the 5th day of their stay at Manila, they proceeded to PCMC. Like the previous routine, the patient had undergone CBC. After the CBC result was taken and proper assessment was done, the patient was injected 2 vials of factor 8. After a day, they went back to Ilocos. Our patient was admitted at MMMH & MC last October 23, 2011 at 3:00 in the afternoon because of gum bleeding. He had his decayed tooth (not specified by the grandmother) which served as the source of his bleeding. The next day, he received 3 units of cryoprecipitate. On the 25 th, his bleeding reoccurred and that, another 3 units of cryoprecipitate were given. Dr. Farinas ordered the patient to undergo CBC and aPPT. At 4:00 in the afternoon, he had undergone the said tests. And at 8:00PM, the bleeding still
58

persisted and so, Dr. Farinas requested for another 3 units of cryoprecipitate. On October 26, early in the morning at 6, Dr. Farinas ordered 3 units of cryoprecipitate STAT and BT was given immediately upon order. In addition, Dr. Farinas also ordered Fluimucil Mucolytic 200mg. This drug was taken by the patient by means of dissolving the medication in a glass of water. On the 27th at around 1:30PM, the bleeding still continued and so Dr. Farinas immediately requested for 3 units of cryoprecipitate again and was administered immediately upon order. On the 28th, the patient was ordered with Tranexamic Acid 100mg/ml solution for IV every 8 hours. When the bleeding finally stopped, the doctor ordered the patient for discharge on October 28, 2011. Because the patient gets tired easily, his grandparents bought him a wheelchair. The grandparents ensured that their grandson would be free from injury, fall and etc.; they provided him strict or focused attention. He continued his studies. Last September 2, 2012, while the patient was walking in front of their house, he suddenly complained of pain in his legs. His grandparents were not alarmed of this and that they did not bring their grandson to a health care facility. No interventions were also performed by the grandparents except for instructing him to take frequent periods of rest. Until on the 4th of September, the patients complaint became worse. He was not able to take some sleep on the night of the said day because he was complaining and suffering from severe leg pain which was characterized as painful and even more painful when its being stimulated like touching and his leg swelled.
59

According to his grandmother, he also had experienced having cold sweat. He was crying out loud and never stopped complaining and so, the grandparents finally decided to send their grandson to MMMH & MC. On September 5, the patient was admitted at the said institution with a chief complaint of non-pitting edema. He had an admitting diagnosis of Hemophilia A.

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E. DEVELOPMENTAL DATA

) Erik Erickson's Psychosocial Theory

Development continues throughout life and as it goes on, everyone encounters the different developmental stages and its corresponding task. Each assigned task plays an important role in molding ones personality. John Reynon, 10 years old, belongs to the school age. Generally, school age begins around 6 to 12 years old. The central task given to this stage is Industry vs. Inferiority. Erick Erickson establishes psychosocial stages during 8 periods of human life, which is described in this theory. He identifies a crisis or a particular challenge that exists for healthy personality development to occur for each stage. Erickson believes that when needs are met, the result would be positive/healthy personality and the individual moves to the future stage with particular strengths. In short, the greater the task achievement, the healthier is the personality of the individual. On the other hands, when needs are not met, the outcome would be unhealthy which will influence future relationships or failure to achieve the next task. Tasks, negative resolution and the capacity of the child to do such task are shown in the table below. Stage Industry Inferiority Task Hazards Met/Unmet

vs. 1. Beginning to 1. Loss of hope, This task was met create, sense of being because he can
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develop manipulate

and mediocre

already manipulate gadgets like,

video games, and cell phone. He

also knows how to draw maps, and region as part of his 2.Developing sense competence and perseverance 2. school

requirements. Withdrawal He met this task, of his

of from school and despite peers

condition, he still goes and to he school, is to

determined

finish his studies. He sure finishes passes assignments also makes he and his and

that

projects on time with the

62

verbalization the nu

of

grandmother adda tay dan, na kasi

assignment ubraen dagusen

madi na kayat nga maladaw agipasa. nga

Analysis: He was able to meet/pass the entire task indicated in this stage which means that he is developing normally despite of his condition and may proceed to the next stage without negative resolution or hazards. After achieving the task, the patient will boost his confidence and self-esteem. B.) Robert Havighursts Theory of Developmental Task Havighursts introduced Developmental theory and he believed that the development of a human is a process in which every person continues learning throughout his life. According to his Developmental Theory, once you have achieved the task successfully it gives you happiness and ease in attaining the other tasks. However, if you failed to achieve those, it leads to unhappiness and feeling of disapproval by the people around you. It also
63

results in difficulty of achieving the later tasks. He theorizes that learning is essential to life and that to understand growth and development, one must understand it and accept the premise that the human being continues to learn throughout life There are 6 stages, which Havighurts described the growth and development of an individual with particular task that must be achieved. Our clients age is 10 years old and belongs to middle childhood. The following are the Developmental Tasks under this stage, which he enumerated: Stage MIDDLE CHILDHOOD Task 1. Learning physical skills necessary for ordinary games Met/Unmet Unmet, because his grandmother, claimed that they never let him do exertional activities to protect him from injury; instead, he only plays video games/computer games. 2. Building wholesome attitudes toward oneself as a growing organism This task was unmet, as what other children usually do, playing in the field, running around their

school and all; the patient sees himself as a bit

64

unsuccessful his

because

of But, his

condition. to

according

grandmother, he takes his responsibility as a student like doing his assignments and as a child by following the advice given by the grandparents. He also

respects his parents and elderly. 3. Getting along with age-mates John met this task because he has friends who knows about his condition and visits him at their house to play videogames and according to his grandmother his friends are the ones pushing his wheelchair to roam around their school.
4. Learning an

This task was met because according to his

65

appropriate

masculine social role

grandmother most of his friends are boys. He plays video games that are

indicated for the boys. He also likes to wear sando and pajamas with cartoon characters rangers, like ben 10 power etc.

printed on it. And as stated by his grandmother, his favorite character is Ben 10. 5. Developing fundamental skills in reading, writing, and calculating This task was met because according to his grandmother, he is active in school even though he absents himself due to his clinical condition and he can easily cope up with their lessons. Also, according to his grandmother, he can read, write and manipulate
66

numbers and letters easily and John does his assignments alone and is able to get grades at least 80. 6. Developing concepts necessary for everyday living He met this task because according to his grandmother, John prays everyday especially because of his condition. 7. Achieving personal Unmet, because whenever independence he wants to move to another place, they carry him and his grandmother verbalizes "mabuteng pay isuna nga agmaymaysa". 8. Developing attitudes toward social groups and institution. This is met he games he by John, plays with

whenever competitive his friends; and

accepts puts

defeat

never

anger on them. He shows good and appropriate

67

attitudes towards others. And also, he respects his teachers by greeting them whenever they meet them.

Analysis: He met 5 task which are, getting along with age-mates; learning an appropriate masculine social role; developing fundamental skills in reading, writing, and calculating; developing concepts necessary for everyday living; Achieving personal independence; developing attitudes toward social groups and institution. However, there are three tasks which are unmet namely learning physical skills necessary for ordinary games, building wholesome attitudes toward oneself as a growing organism and achieving personal independence as brought about by his clinical condition. This does not mean that he is not developing well; he is just delay or lacking behind. GENERAL ANALYSIS: In Erik Erickson's developmental theory, John belongs to Industry vs. Inferiority. He was able to pass the entire task indicated on that stage which means that he is developing normally and may proceed to the next stage without any hazards.

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In Robert Havighurst theory of Developmental task on the other hand, the child belongs to middle childhood. He was not able to meet task of learning physical skills necessary for ordinary games, building wholesome attitudes toward oneself as a growing organism and achieving personal independence. However he is developing well and he is just lacking behind or he is just delayed.

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F. PATTERNS OF FUNCTIONING I. EATING PATTERN

BEFORE HOSPITALIZATION

DURING HOSPITALIZATION

The patient eats his breakfast at 6:00- The patient is on diet for his age, he 7:00 AM. It is usually composed of 1-2 can consume whole of the hospital cups of rice, 2-3 pieces of hotdog, if not ration given for his breakfast, lunch 2 slices of spam. For his lunch, he and supper with special consideration usually eats at 11:00- 12:00 NN which of the content of his meal, only those is usually composed of 1-2 cups of rice, that are soft. He eats his breakfast at cup of boiled vegetables usually 6:00-6:30 AM, 11:30-12:00 NN on his horse radish, squash and fried fish. As lunch, 6:00-6:30 PM on his dinner. for his supper, he eats 6:00-7:00 PM, Whenever he is hungry (usually 9 in which is composed of 1 cup of rice, and the morning and 3 in the afternoon) a half cup of chunks of meat. He they give him 2-3 slices of bread or 1-

usually eats his snacks at morning and 2 biscuits. However, as per claimed by afternoon which is composed of 1-2 the grandmother, the patient let her crackers/biscuits, and at least 1 junk buy what he wants to eat outside like food each snack. The patient prefers to Jollibee (1 piece chicken, 1 piece eat fried (fish, hotdog and the likes). He burger and the likes). also eats vegetables, especially during his lunch.

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Analysis: There is no significant change on the eating pattern.

II.

DRINKING PATTERN

BEFORE HOSPITALIZATION

DURING HOSPITALIZATION

The patient usually drinks 5-6 glasses The patient usually drinks 2-3 glasses (1200-1400 ml) of water and 1-2 small of water a day and he can consume glasses (150-300 ml) of softdrinks or 480-720 ml of liquid a day. He drinks fruit juices a day. He can consume - 1 glass of water after each meal 1700 ml of liquid a day. He drinks 1 and at most half glass of water when glasses of water after each meal and at he is thirsty or after he has his most 1 glass of water when he is thirsty snacks. or after he has his snacks.

Analysis: There is a significant change on the drinking pattern, since there is decrease fluid intake of the patient during hospitalization because of the presence of non-pitting pedal edema. Likewise, as per claimed by the grandmother, she and the patient were advised by the physician to decrease the clients fluid intake.

III. BLADDER PATTERN

BEFORE HOSPITALIZATION

DURING HOSPITALIZATION
71

The patient voids 6-8 times a day with The patient voids ranging from 3-4 approximately 150-175cc per urination. times a day with approximately 150cc It is characterized as yellow to orange per urination. It is characterized as colored urine and with slight offensive yellowish colored urine and without odor. He urinates 1000-1400cc per day. offensive odor. He urinates 450-600 cc per day.

Analysis: There is a significant change on bladder pattern of the patient, since the frequency of voiding and amount of urine in a day has decreased because of his decreased fluid intake, and also related to the present health condition of the patient.

IV. BOWEL ELIMINATION PATTERN

BEFORE HOSPITALIZATION

DURING HOSPITALIZATION

The patient usually defecates 1-2 The patient defecates once a day and times a day usually in the morning, sometimes not. The stool is brownish characterized as brownish yellow yellow in color, soft and semi-formed.

stool, soft and well formed.

Analysis: There is a significant change on the bowel pattern since the number of times the patient defecates decreases because of constipation due to decrease physical activity and decrease fluid intake.
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V. SLEEPING PATTERN

BEFORE HOSPITALIZATION

DURING HOSPITALIZATION

The patient sleeps for about 8-9 The patient sleeps for about 8 hours at hours at night. He goes to bed at night. He sleeps at 9:00 PM and wakes 8:00-8:30 PM and wakes up at up at around 6:00 AM. He also sleeps for

around 6:00-6:30 AM. He also sleeps about 1-2 hours anytime during the day. for about 2-3 hours during weekends, There were occasional interruptions in usually at 2:00-4:30 in the afternoon. his sleep due to swelling on right knee There were no interruptions in his and pain on right foot, administrations sleep. of drug & other medical purposes (v/s taking), and also with the environment because of noisy nurses, watchers and other patients.

Analysis: There is a significant change on sleeping pattern, since the time of sleep of the patient had decreased due to occasional interruptions in his sleep like the pain on his right foot, swelling on right knee, administrations of drug & other medical purposes (v/s taking), and also with the environment because of noisy nurses, watchers and patients.

VI. BATHING PATTERN

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BEFORE HOSPITALIZATION

DURING HOSPITALIZATION

The patient usually takes a bath The patient only has TSB at morning twice a day. A full bath taken during and afternoon. early morning, usually after breakfast at around 6:30-7:00 AM, and a partial bath, washing only the body and the face, at night time at around 7:007:30 PM.

Analysis: There is significant change on the bathing pattern, since the patient is no longer taking a full bath during hospitalization because his activity intolerance (inability to stand alone), due to pain felt on his right foot and swelling on right knee.

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G. LEVEL OF COMPETENCY Level of Competencies Physical Competency Before During

Hospitalization Hospitalization Though he easily gets Unable to do activities tired can and still weak, do of he his daily without such as of daily living alone due to weakness and easy fatigability.

activities living assistance eating, bathing, clothes, school.

brushing, putting going up to Most of the time, he is assisted by his

grandmother.
Unable to walk alone

Plays light games with his classmates and

due to weakness so he is aided by

neighbours.

wheelchair or saklay. (And immobility

brought about by the pain and his swelling right knee.)

Analysis: His daily activities were greatly affected because of his condition. During hospitalization, the patient was unable to do his activities for himself
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due to weakness and immobility brought about by the pain and swelling on the right leg. Level of Before hospitalization Competencies Emotional Competency hospitalization The patient cries at The patient cries at times as a means of his emotions. He cries whenever the things he wants are not given and whenever he feels unwell. times as a means of his emotions. He cries whenever the things he wants are not During

given and whenever he feels unwell.

As he grew old, he tried to deal with

He tries to deal thing with his own.

things on his own but sometimes, he tells it to his grandmother.

(Like he wants to play with no restrictions

and he eats foods not good for him such as guava) When it comes to his
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When it comes to his condition, he tells and

condition, he tells it to the family and

expresses his feelings to his family. became worried

expresses his feelings He to them.

and concerned about being because about lecture, assignments projects in school. hospitalized he his thinks missed missed and

Analysis: There is no change in the emotional competency of the child. Level of During

Before hospitalization Competencies hospitalization Social Competency As stated by his As stated by his grandmother, he goes to school and mingles well with his classmates, joins school As per the observation, patient is grandmother, limit him in they joining

school activities.

sometimes activities.

Also plays light games with them. Interacts with their

even

very weak; he tries to interact with the

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neighbours.

interviewers. has a good his

Has a good relationship He with his grandparents.

relationship

with

grandparents.

Analysis: His social competency did not change. Level of Before hospitalization Competencies Spiritual Competency hospitalization Seldom goes to church He prays for guidance but stated that most of the time, he prays for guidance and strength for him to be able to face his condition. and strength for him to be able to face his condition and to During

handle the symptoms well.

Analysis: There is no change in his spiritual competency. Level of Competencies Intellectual Competency Before During hospitalization hospitalization As stated, he is able As stated, he is able to to decide on things particularly when it decide on things

particularly when it comes to his studies; but when it comes to his condition, the patient, together with the
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comes to his studies; but when it comes to his condition, the

patient, together with the grandparents,

grandparents, one.

decide

as

decide as one. Oriented person, events. Able to understand to time place, and Oriented to place, person, time and events. Able to understand and gain some facts about his disease (what is it, why the that, treatments what are like be

some facts about his disease (what is it, why the treatments

are like that).

should

avoided). Asks more questions about his condition and willing to learn more about it.

Analysis: There is no change in his intellectual competency.

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H. Physical Assessment Date of Assessment: September 7, 2012 General appearance: John Reynon was seen lying on bed, awake wearing yellow shirt and green pants. He looks weak in appearance. He has endomorphic body built. He was with on-going IVFluid of 5% Dextrose in Water at 300 cc level inserted on cephalic vein. He is about 143 cm in height and 40 kgs in weight. VITAL SIGNS TAKEN AS FOLLOWS: RR: 23 breaths per minute, regular rhythm CR: 121 beat per minute, regular rhythm BP: 90/70 mmHg TEMP: 37.4C, right axillae Head:

Head is hard and normocephalic No lesions noted With clean and dry scalp Scalp is lighter in color than complexion No tenderness or masses noted upon palpation
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With smooth and firm hair With evenly distributed black hair-covers the whole scalp

Face: With symmetrical facial features No involuntary muscle movements noted Able to move facial muscles at will Face is symmetric with a round appearance There is no swelling and tenderness with movement upon palpation on the temporomandibular joint Eyes With symmetrical, evenly distributed eyebrows The upper and lower lids close easily and meet completely when closed With equal palpebral fissure With white sclera
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No tenderness noted upon palpation on the temporal artery With intact cranial nerve V and VII

With long eyelashes and evenly distributed and curve outward along the lid margins

With round and black color iris Pupils are round with a regular boarder centered in the iris Pupils are equal and reactive to light No redness, swelling or lesions on the skin on both eyelids With pinkish upper and lower conjunctiva Free from swelling, foreign bodies or trauma on the palpebral conjunctiva

No redness and swelling on the lacrimal gland With symmetrically aligned eyes No drainage noted from the puncta upon palpation on the nasolacrimal duct

Ears:

With transparent cornea

With bean shaped, symmetrical earlobes The pinna is in line with the outer canthus of the eye

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Skin is same in color as with complexion No pain and tenderness noted upon palpation on the mastoid process and auricles

With minimal and odorless brown cerumen in the ear canal upon inspection

No lesions or nodules in the canal wall noted With intact inner ear With good hearing acuity-able to repeat what examiner said through the voice test

Nose and Sinuses: Nose in the midline No flaring of the nostrils noted With patent nares With minimal discharges noted No tenderness and pain noted on the frontal and maxillary sinuses upon palpation Nasal septum in midline With pinkish nasal mucosa
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Color of the nose is the same as the rest of the face

Mouth:

Lips are dry With pinkish inner lips and buccal mucosa No unusual or foul odor noted With 24 yellowish teeth with smooth surfaces and edges and 12 lower) (12 upper

no missing teeth With pinkish and moist tongue Tongue is in midline position No lesions, ulcers or nodules are apparent With whitish hard palate With pinkish soft palate Uvula hangs freely in the midline

Neck: Neck is symmetric with head centered Trachea in midline position

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No masses and swelling noted Trachea in midline Able to turn head from side to side, up and down

Chest and lungs:

Shoulders are at equal horizontal positions Sternum in midline does not using accessory muscles in breathing With symmetrical lung expansion With a cardiac rate of 121 bpm, regular rhythm With a respiratory rate of 23 bpm, regular rhythm With straight spinal process alignment upon inspection No tenderness or pain is palpated over the lungs area with respirations

Breasts and Axillae: With brown, rounded areola With rounded nipples, same color with areola No mass/lumps or tenderness noted upon palpation

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No rash or infection noted on the axilla

Abdomen:

With uniform skin color Umbilicus is in midline at lateral line With unblemished skin With symmetric movement in respiration No lesions noted Not distented

Upper Extremities:

Arms are bilaterally symmetric Hands and arms have the same complexion With D5W inserted on cephalic vein, right hand Warm to touch Able to extend and flex arm With good muscle strength on both arms, rate of 4 Nails are dirty and long

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Nailbeds are pinkish Capillary refill in 2 seconds With hematoma on left elbow (1.3 cm in diameter)

Lower Extremities: No lesions or ulcerations noted Legs and thighs have the same complexion Warm to touch The right knee move

joint is swollen, warm to touch, and painful to

With non-pitting edema on the right leg With pain on the right leg upon movement and palpation With hematoma on posterior left knee and right ankle (1.5 cm in knees and 3 cm in ankle)

Nailbeds are pinkish Nails are dirty and long.

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