TRANSMISSION OF HEMOPHILIA

(A Sex- Linked Genetic Disorder)

A Case Study

By:

CANDIDO, Kezia Ricshiel T.

COLIPANO, Lady Ann Apple C.

Grade 12 STEM- Andromeda

SENIOR HIGH SCHOOL DEPARTMENT
GENERAL SANTOS CITY NATIONAL HIGH SCHOOL
Calumpang, General Santos City

June 2019
Introduction

We write this case study for us to know and gain more knowledge about this
kind of disease and also to understand more how this kind of disease
transmitted, what are the symptoms and other information that could help us
to truly understand this kind of genetic disorder.

We hope that this case study could help other people special to gain more
knowledge and truly understand what kind of sex- linked genetic disorder
hemophilia is. This kind of case study could also provide references to make
my statement reliable.

WHAT IS HEMOPHILIA?
Overview

Hemophilia is not one disease but rather one of a group of inherited bleeding
disorders that cause abnormal or exaggerated bleeding and poor blood
clotting. The term is most commonly used to refer to two specific conditions
known as hemophilia A and hemophilia B. Hemophilia A and B are
distinguished by the specific gene that is mutated (altered to become
defective) and codes for a defective clotting factor (protein) in each disease.
Rarely, hemophilia C (a deficiency of Factor XI) is encountered, but its effect
on clotting is far less pronounced than A or B.

As mentioned above, hemophilia is caused by a genetic mutation. The

mutations involve genes that code for proteins that are essential in the blood
clotting process. The bleeding symptoms arise because blood clotting is
impaired. If the lining of the blood vessels becomes damaged, platelets are
recruited to the injured area to form an initial plug. These activated platelets
release chemicals that start the clotting cascade, activating the series of 13
proteins known as clotting factors. Ultimately, fibrin is formed, the protein
that crosslinks with itself to form a mesh that makes up the final blood clot.

Source: https://www.medicinenet.com/hemophilia/article.htm#what_is_hemophilia

SIGN AND SYMPTOMS

Hemophilia can vary in its severity, depending upon the particular type of
mutation (genetic defect). The degree of symptoms depends upon the levels
of the affected clotting factor. The extent of bleeding is dependent upon the
severity (the amount of factor activity) and is similar for hemophilia A and B.
In severe hemophilia, bleeding episodes usually begin within the first 2 years
of life. Heavy bleeding after circumcision in males is sometimes the first sign
of the condition. Symptoms may develop later in those with moderate or
mild disease. The bleeding of hemophilia can occur anywhere in the body.
Common sites for bleeding are the joints, muscles, and gastrointestinal tract.
Specific sites and types of bleeding are discussed below.

 Hemarthrosis (bleeding into the joints) is characteristic of hemophilia.

The knees and ankles are most often affected.
 Bleeding into the muscles may occur with hematoma formation
(compartment syndrome).
 Bleeding from the mouth or nosebleeds may occur. Bleeding after
dental procedures is common, and oozing of blood from the gums may
occur in young children when new teeth are erupting.
 Bleeding from the gastrointestinal tract can lead to blood in the stool.
 Bleeding from the urinary tract can lead to blood in the urine
(hematuria).
 Intracranial hemorrhage (bleeding into the brain or skull) can lead to
symptoms such as nausea, vomiting, and/or lethargy, and can lead to
death.
 Increased bleeding after surgery or trauma is characteristic of
hemophilia.

HOW HEMOPHILIA IS INHERITED OR TRANSMITTED?

The gene with the instructions for making factor is found only on the sex
chromosome labeled X. If the gene is faulty, the result is hemophilia unless
there is a dominant, normal gene on a matching X chromosome. Hemophilia
is a sex-linked recessive disorder. These kinds of defects occur more often in
men than in women. This section will explain all of this in more detail.

What is a hemophilia carrier?

A daughter gets an X chromosome from her mother and an X chromosome
from her father. Suppose the X chromosome from her mother has the gene
for normal blood clotting. Suppose the X chromosome from her father has
the gene for hemophilia. The daughter will not have hemophilia since the
normal blood clotting gene from her mother is dominant. It won't allow the
instructions from the hemophilia gene to be sent. The daughter is called a
carrier for hemophilia. She has the gene on one of her X chromosomes and
could pass it on to her children.

What are the chances of having a child with hemophilia?

 No sons of a man with hemophilia will have hemophilia.
 All daughters of a man with hemophilia will be carriers (called obligate
carriers).
 If a carrier has a son, the son has a 50% chance of having hemophilia.
 If a carrier has a daughter, the daughter has a 50% chance of being a
carrier.

How could hemophilia appear in a family that has no history of the disorder?
In some families, there is no known family history of hemophilia. The
hemophilia gene seems to appear from nowhere and the family is shocked
and confused. There are several reasons this could happen. First, the family
may not know about or may have forgotten ancestors with hemophilia.

Second, the gene for hemophilia may have been passed down by carrier
females without anyone knowing. For several generations, the women may
have had no boy children or by chance had only normal boys. No one would
have known about the hemophilia gene. Third, hemophilia may appear in
families with no history of it if the normal blood clotting gene suddenly
becomes messed up (a spontaneous genetic mutation).

Source: https://www.hog.org/handbook/section/2/how-hemophilia-is-inherited

CONCLUSION

Hemophilia is not one disease but rather one of a group of inherited bleeding
disorders that cause abnormal or exaggerated bleeding and poor blood
clotting that we need to know in order to us to be aware about this kind of
condition. And I can say with the use of gathered data we can completely
determine the rates and severity of disease complications, and we could
describe the treatment and some care patterns, also assess quality of life,
and determine health issues for further study.

Therefore, it is important to know about hemophilia so we could understand

more how this kind of genetic disorder can be transmitted and how it can be
treated.

REFERENCES

[1] What Is Hemophilia? Definition, Symptoms of ... – MedicineNet

https://www.medicinenet.com/hemophilia/article.htm#what_is_hemo
philia

[2] How Hemophilia is Inherited > Genetics > HoG Handbook ...
https://www.hog.org/handbook/section/2/how-hemophilia-is-inherited

[3] Why We Do Research on Hemophilia | CDC

https://www.cdc.gov/ncbddd/hemophilia/research.html