Hemophilia Hemophilia is a rare hereditary (inherited) bleeding disorder in which blood cannot clot normally at the site of a wound

or injury. The disorder occurs because certain blood clotting factors are missing or do not work properly. This can cause extended bleeding from a cut or wound. Spontaneous internal bleeding can occur as well, especially in the joints and muscles. Hemophilia affects males much more often than females. There are two types of inherited hemophilia Type A, the most common type, is caused by a deficiency of factor !""", one of the proteins that helps blood to form clots. Type B hemophilia is caused by a deficiency of factor "#. $lthough hemophilia is usually diagnosed at birth, the disorder can also be ac%uired later in life if the body begins to produce antibodies that attack and destroy clotting factors. Howe&er, the noninherited or ac%uired type of hemophilia is &ery rare. What causes hemophilia? The genes that regulate production of factors !""" and "# are found on the # chromosome only. Hemophilia is caused by an abnormal gene on the # chromosome. "f a woman carries the abnormal gene on one of her chromosomes (females ha&e a pair of # chromosomes), she will not ha&e hemophilia herself, but she will be a carrier of the disorder. That means that she can pass the gene for hemophilia on to her children. There is a '() chance that any of her sons will inherit the gene and will be born with hemophilia. There is also a '() chance that any of her daughters will be carriers of the gene, without ha&ing hemophilia themsel&es. "t is &ery rare for a girl to be born with hemophilia, but it can happen if the father has hemophilia and the mother carries the gene for hemophilia. Their daughter will then ha&e the abnormal gene on both of her # chromosomes. "n about *() of all cases of hemophilia, the disorder is caused by a spontaneous gene mutation. How common is hemophilia? Hemophilia is an extremely rare disorder about +,,((( people in the -.S. ha&e been diagnosed. Some .(( babies in the -nited States are born with hemophilia e&ery year. $bout / out of +( hemophiliacs ha&e type $ hemophilia. $round 0( to 1() of people with hemophilia ha&e the se&ere form of the disorder, about +') ha&e the moderate form, and the rest ha&e mild hemophilia. Hemophilia can occur in all races and ethnic groups. What are the symptoms of hemophilia? 2rolonged external bleeding, and bruising that occurs easily or for no apparent reason, are two major symptoms of hemophilia. The symptoms of hemophilia &ary depending on whether the person has the mild, moderate, or se&ere form of the disorder. 3or people with se&ere hemophilia, bleeding episodes occur more often and with little pro&ocation. Sometimes, bleeding begins for no apparent reason. 3or those with moderate hemophilia, prolonged bleeding tends to occur after a more significant injury. 2eople with the mild form of hemophilia might ha&e unusual bleeding only after a major injury, surgery, or trauma. 2eople with hemophilia may also ha&e internal bleeding (inside the body), especially in the muscles and joints, such as the elbows, knees, hips, shoulders, and ankles. 4ften there is no pain at first, but if it continues, the joint may become hot to the touch, swollen, and painful to mo&e. 5ontinued bleeding into the joints and muscles can cause permanent damage, such as joint deformity and reduced mobility (ability to get around).

6leeding in the brain is a &ery serious problem for those with se&ere hemophilia, and may be life7threatening. Signs of bleeding in the brain may include changes in beha&ior, excessi&e sleepiness, persistent headaches and neck pain, double &ision, &omiting, and con&ulsions or sei8ures. How is hemophilia diagnosed? $ doctor will perform a physical examination to rule out other conditions. "f you ha&e symptoms of hemophilia, the doctor will obtain information about your family9s medical history, since this disorder tends to run in families. 6lood tests are then performed to determine how much factor !""" or factor "# is present in your blood. These tests will show which type of hemophilia you ha&e, and whether it is mild, moderate, or se&ere, depending on the le&el of clotting factors in the blood 2eople who ha&e '7:() of the normal amount of clotting factors in their blood ha&e mild hemophilia. 2eople with +7') of the normal le&el of clotting factors ha&e moderate hemophilia. 2eople with less than +) of the normal clotting factors ha&e se&ere hemophilia How is hemophilia treated? The treatment will depend on the type and se&erity of the disorder. The treatment is usually replacement therapy, in which concentrates of the clotting factors !""" or "# are gi&en as needed to replace the blood clotting factors that are missing or deficient. These blood factor concentrates can be made from donated human blood that has been treated and screened to reduce the risk of transmitting infectious diseases, such as hepatitis and H"!. ;ecombinant clotting factors, which are not made from human blood, are also a&ailable to further reduce the risk of infectious disease. <uring replacement therapy, the clotting factors are injected or infused (dripped) into a patient9s &ein. -sually, people with mild hemophilia do not re%uire replacement therapy unless they are going to ha&e surgery. "n cases of se&ere hemophilia, treatment may be gi&en as needed to stop bleeding when it occurs. 2atients who ha&e &ery fre%uent bleeding episodes may be candidates for prophylactic factor infusions= that is, infusions gi&en two or three times per week to pre&ent bleeding from occurring. 2eople with se&ere hemophilia are more likely to experience serious bleeding problems, including internal bleeding. ;eplacement therapy can reduce or pre&ent joint or muscle damage caused by internal bleeding. Some people with the mild or moderate form of hemophilia type $ can be treated with desmopressin (<<$!2), a synthetic (man7made) hormone that helps to stimulate the release of factor !""" and another blood factor that carries and binds to it. Sometimes <<$!2 is gi&en as a pre&enti&e measure before a person with hemophilia has dental work or participates in sports. <<$!2 is not effecti&e for people with type 6 hemophilia or se&ere hemophilia type $.

Hemophilia disease is a kind of genetic blood disorders due to malfunction of blood clotting factors or genetic mutation. As the clotting doesn't take place properly, it often results into anemia and death. Also known as royal disease, this is linked with x chromosomes. What is Hemophilia? Hemophilia is a rare blood disorder that is linked to the X-Chromosome and in some cases is due to a genetic mutation. he X and ! chromosomes are the genetic material that determines the gender of the child. "omen ha#e two X chromosomes and men ha#e a set of X! Chromosomes. herefore women are only carriers of hemophilia and pass it on to their sons. hus this $royal disease$ is passed from mother to son. %ifty percent of the children of a couple where a woman is a carrier and a man is not afflicted with the disease will either get the disease &sons' or become carriers of the disease &disease'. (n the case where the man is afflicted with the disease, the girls will be carriers, but his sons will not get the disease. his is because the disease itself is passed from the mother, through her X chromosome. here are two types of hemophilia, A and ). Hemophilia A &also called factor *((( deficiency and classic hemophilia' is the more common of the two. his is a disease that is caused by a lack of a certain protein that is necessary for production of a ma+or component in the clotting process known as factor *(((. "ith this disease smaller cuts or bruising are not a problem. hough ma+or problems are caused by traumatic in+uries that lead to neither faster, nor harder ,uality of bleeding, but bleeding that will not stop. Hemophilia ), also known as $Christmas disease$ &named after the first person diagnosed with it in -./0' or factor (X deficiency, is caused by a deficiency in a different blood clotting factor and is less pre#alent than the factor *((( #ersion. his #ersion appearing in - in 0/,111 male births as opposed to the factor *((( #ersion that appears in one in /,111 male births. he genetic appearances of this factor deficiency are the same as that with factor *(((. Symptoms here are degrees of both hemophilia A and ), they are as follows2 Mild hemophilia (factor levels of 6%-49%) 3 hese patients only suffer significant bleeding after ma+or in+ury or other causes of bleeding such as trauma or surgery. 4ften this degree of hemophilia will not be found until an in+ury causes excessi#e bleeding &sometimes not e#en until adulthood'. Moderate hemophilia 3 Around -/5 of the people with this disease- these patients ha#e what is known as $spontaneous bleeding episodes$, times when they bleed for no known cause. Severe hemophilia 3 Around 615 of those with it bleeds spontaneously fre,uently, usually into the +oints and muscles, these people also bleed after an in+ury.

Treatment (n America there are speciali7ed treatment centers &called H C's' that ha#e specialists that co#er a multitude of concerns that would be able to assist people with this and other blood disorders. 8ome of these areas are social workers, hematologists &both adult and pediatric', dentists, gynecologists and se#eral others. %or those with mild hemophilia, small cuts and scrapes are treated as usual and additionally a non-blood product is added &99A*:' for treating minor bleeding incidents. reating ma+or bleeding incidents or bleeding into the +oints and muscles are treated by gi#ing the patient the missing factor &*((( or (X'. his is the only way to sol#e these problems as they arise. %or ma+or bleeding in+uries, he ;edical and 8cientific Ad#isory Council of the <ational Hemophilia %oundation has recommended using recombinant blood products, which are blood factors made with products that are produced in a lab as opposed to donated blood products. hese products are recommended because they tend to be safer and the chance of getting A(98 is greatly diminished since transfusion of donated blood products has been known to be a cause of A(98. (t is recommended that those &most often children' with se#ere hemophilia &both A and )' be gi#en regular pre#enti#e doses of the missing factors. (n rare circumstances &more with hemophilia A, than with )' there is a possibility of ad#erse reactions &either allergic reactions or resistance to the standard treatment factor'. (n this case be sure to let your doctor or health treatment center &H C' knows. Hemophilia is caused due to lack or absence of proteins, called blood clotting factors. (t can be inherited or ac,uired during the lifetime of an indi#idual >et us see some more facts about this disorder. The blood sample of a hemophilic person shows lack or complete absence of a group of proteins called clotting factors. There are &arious types of clotting factors, which in association with blood platelets, are responsible for normal blood coagulation or clotting. ?hen a blood &essel is injured, the clotting factors and platelets work together to stop bleeding. The o&erall signs and symptoms of hemophilia may differ based on the clotting factor and also the site of injury or bleeding. "t is mostly manifested in males, which is due to its genetic cause. This bleeding disease results due to a disorder in the # chromosome. "n females, there are two # chromosomes, meaning that they ha&e a backup # chromosome, e&en if one is affected. There is only one # chromosome in males= if the # chromosome contains the infected gene responsible for causing hemophilia, then the person is hemophilic. 3emales are usually the carriers of hemophilia, which may be passed either from the mother or the father. 3emale carriers may show mild symptoms of bleeding. There are many such diseases in the world that are not caused by an external factor 7 like bacteria or &iruses. "nstead, these conditions are caused by genetic factors that are present in the body right from birth. These diseases are referred to as hereditary genetic diseases. 4ne such disease

that comes under the spectrum of hereditary genetic diseases is hemophilia 7 a condition wherein the body@s clotting or coagulation mechanism is impaired as a result of which bleeding does not stop after the stipulated period when there is an injury and a blood &essel is broken. Causes of Hemophilia ?hen we wish to discuss the causes of this recessi&e genetic disorder, it will entail both 7 exactly what causes the symptoms of this condition and how this condition is passed on from one indi&idual to another as hemophilia causes and symptoms are interrelated. Pathogenesis of Hemophilia There exist three different types of hemophilia, classified on the basis of the kind of clotting factor that is missing. They are Hemophilia $ or classic hemophilia $t ,( percent, this is the most common hemophilia type which is caused as a result of clotting factor !""" deficiency. Hemophilia 6 "f Hemophilia $ constitutes ,( percent of the cases, Hemophilia 6 7 caused by factor "# deficiency, constitutes nearly *( percent of the cases. Hemophilia 5 This is the rarest of all three and is caused due to deficiency of clotting factor #". This is usually the mildest of all three. "n short, hemophilia is caused due to a missing clotting factor which is re%uired for the normal coagulation process to be completed. ?hen a blood &essel is broken, in case of a hemophilic, a small scab does form, but the fibrin formation 7 which leads to the hardening and closure of the wound, doesn@t occur. <ue to this lack of formation of a basic blood clot, the bleeding will not be more intense 7 but instead may last much longer with blood occasionally oo8ing out for days or e&en weeks at times. That being said, such an injury could be fatal if it takes place inside the body 7 like in the brain or in the internal organs. Transmission of Hemophilia Since hemophilia is not caused due to any external microorganism, we should try and understand how this condition then manages to affect an indi&idual. $s mentioned earlier, it is a sex linked recessi&e disorder. ?e know that e&ery human being has two chromosomes 7 ## chromosome pattern in females whereas #A pattern in males. The defecti&e gene for hemophilia is present only on the # chromosome. Thus, if males manage to get that # chromosome which contains the defecti&e gene, they will suffer from hemophilia this regressi&e genetic disorder. 2re&ention 6ecause of its genetic origins, hemophilia cannot be pre&ented in those born with the inherited defects or factor deficiencies. Howe&er, indi&iduals who ha&e a family history of hemophilia may benefit from genetic testing and counseling before deciding to ha&e a baby. The most important way for indi&iduals with hemophilia to pre&ent complications of the disease is to a&oid acti&ities that may lead to injury. Those indi&iduals who re%uire dental work or any type of surgery may need to be pre7treated with an infusion of factor !""" to a&oid hemorrhage. Hemophiliacs should also a&oid medications or drugs that promote bleeding= aspirin is one such medication and many prescription drugs ha&e anticoagulant properties. ;ead more http BBwiki.answers.comBCB?hatDisDtheDpre&entionDforDhemophiliaEix88+yjF8*d&3