Though hemophilia is a rare disorder, it is still one of the most common severe hereditary

hemorrhagic disorders, occurring for about 1 of every 5,000 male births (Centers for Disease
Control and Prevention, 2020). Through evaluating various findings affiliated with meningioma,
scientists and doctors have concluded that the causes of hemophilia are inherited genetic
mutations in one of the genes, which provides instructions for making the clotting factor proteins
needed to form a blood clot. According to Cleveland Clinic (2020), mutations in the factor VIII
or factor IX genes on the X chromosome cause hemophilia. There are several types of
hemophilia, with different specific causes in the mutation of the genes on the X chromosome, but
hemophilia A and B are the most common ones. Firstly, hemophilia A, or the Classic
Hemophilia, is caused by the lack or decrease of clotting factor VIII. Consequently, hemophilia
B, or Christmas Disease, is caused by the lack or decrease of clotting factor IX (Centers for
Disease Control and Prevention, 2020). Generally, these genes are located on the X
chromosome. Figure 2.1 shows the inheritance pattern of hemophilia. Every male offspring
receives the mother's X chromosome and the father's Y chromosome. One X chromosome is
inherited from the mother and the other from the father in a female offspring. This implies that
males have just one copy of most X chromosome genes, whereas females have two copies. As a
result, if a man inherits an afflicted X chromosome with a mutation in either the factor VIII or
factor IX gene, he might get hemophilia. Hemophilia can also affect women, but it is far less
common. Both X chromosomes are afflicted in some circumstances, or one is diseased while the
other is absent or inactive. The bleeding symptoms in these women may be comparable to those
in men with hemophilia (Centers for Disease Control and Prevention, 2020).
Hemophilia "carriers" are females who have one affected X chromosome. Hemophilia
symptoms might appear in a female who is a carrier. She can also transmit the clotting factor
gene mutation on to her offspring via the damaged X chromosome.
 Figure 2.1. The Pattern of Inheritance (Hemophilia: Types, Definition, Genetics, Treatment,
Disability, 2019)

Moreover, as hemophilia is an inherited blood disorder and is not contagious, doctors and
scientists identified two factors that are believed to increase the risk factor of a person
developing hemophilia, mainly, a family history of bleeding and being male. Men who are born
into households where previous relatives have had hemophilia are at risk. Males inherit their
mother's X chromosome and their father's Y chromosome. Both their father and mother pass on
an X chromosome to females. According to the Hemophilia Federation of America (Yates,
2021), 70 percent of hemophilia cases have a family background, with hereditary genes handed
down from parent to kid. A woman who possesses the gene has a 50% chance of bearing a son or
daughter with hemophilia, making the daughter a carrier if the disease is passed down through
the family (Yates, 2021). Furthermore, because a son only inherits a Y chromosome from his
father, he cannot acquire hemophilia from him. The defective gene is handed down through the
female parent's X chromosome. Though only those two are the mentioned risk factors,
hemophilia can occur in all races and ethnic groups, as hemophilia A affects 1 in 5,000 to 10,000
males and hemophilia B affects 1 in 25,000 to 30,000 males (Cleveland Clinic, 2020).
Specifically, according to the Centers for Disease Control and Prevention (2020), when a
person is diagnosed with hemophilia, it can result in:
a. Chronic joint disease and pain caused by bleeding within joints
b. Bleeding in the head and sometimes in the brain, which can cause long term
problems, such as seizures and paralysis
c. Death can occur if the bleeding cannot be stopped or if it occurs in a vital organ such
as the brain.
Once diagnosed with hemophilia, the patient's body will experience frequent episodes of
bleeding. The patient may need to take medicine and undergo treatment to control the bleeding
and prevent more complications from occurring.
 To avoid these occurrences, the patient must seek immediate care once symptoms
happen. In the course of time, medical specialists have perceived that hemophilia conveys the
main symptom of prolonged bleeding. According to the Mayo Clinic Staff (2021), specific
symptoms include:
a. Excessive bleeding from wounds or traumas, especially after surgery or dental work,
for no apparent reason
b. There are several huge or deep bruises.
c. Vaccination-related bleeding that is unusual
d. Your joints may be inflamed, swollen, or tight.
e. You have blood in your pee or feces.
f. Nosebleeds that aren't caused by anything
g. Unprecedented irritability in babies
Once the patient experiences these symptoms, it is suggested for them to seek a doctor
who specializes in blood disorders—a hematologist. The hematologist will be conducting
screening tests and clotting factor tests for diagnosis. For families with a history of hemophilia,
any bleeding in the family history, such as after surgery or an injury, or unexplained deaths
among brothers, sisters, or other male relatives, such as maternal uncles, grandfathers, or
cousins, will be addressed to check whether hemophilia was the reason. The doctor will take a
detailed family history to see if a bleeding issue runs in the family. On the other hand, for the
families with no previous history of hemophilia, the doctor will check for hemophilia in a
newborn if:
a. Bleeding after the circumcision of the penis goes on for a long time.
b. Bleeding goes on for a long time after drawing blood and heel sticks (pricking the
infant’s heel to draw blood for newborn screening tests).
c. Bleeding in the head (scalp or brain) after a difficult delivery or after using special
devices or instruments to help deliver the baby (e.g., vacuum or forceps). (Centers for
Disease Control and Prevention, 2011)
After checking on the history of the family, the doctor will conduct screening tests such
as:
a. Complete Blood Count (CBC)
 This common test determines the quantity of hemoglobin, the size and number of
red blood cells, and the number of different types of white blood cells and platelets found
in the blood.
b. Activated Partial Thromboplastin Time (APTT) Test
This test measures how long it takes for blood to clot. It measures the clotting
ability of factors VIII (8), IX (9), XI (11), and XII (12). Once the test is taken and shows
that any of these clotting factors are too low, it means that blood clotting takes longer
than normal. The results of this test will show a longer clotting time among people with
hemophilia A or B.
c. Prothrombin Time (PT) Test
Similar to APTT Test, this test also measures the time it takes for blood to clot. It
measures primarily the clotting ability of factors I (1), II (2), V (5), VII (7), and X (10). If
any of these factors are too low, it takes longer than normal for the blood to clot.
However, the results of this test will be normal among most people with hemophilia A
and B.
d. Fibrinogen Test
The fibrinogen test measures the level of fibrinogen (a protein) in the blood. A
person with hemophilia is born without a normal amount of fibrinogen. The
concentration of fibrinogen can be measured by a blood test. Depending on the results,
this test can indicate whether a person has enough fibrinogen for blood clotting to occur
normally or whether there is too little or too much fibrinogen in the bloodstream.
(Centers for Disease Control and Prevention, 2011)
Once diagnostic tests are done, the hematologist will review all of the results and consult
with the family doctor, who may refer the patient to a specialist for further diagnosis.

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Cleveland Clinic. (2020, January 17). Hemophilia: Diagnosis, Tests, Management and

Treatment. Retrieved March 11, 2022, from

https://my.clevelandclinic.org/health/diseases/14083-hemophilia

Hemophilia: Types, Definition, Genetics, Treatment, Disability. (2019, September 24).

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definition-genetics-treatment-disability/

Mayo Clinic Staff. (2021, October 7). Hemophilia - Symptoms and causes. Mayo Clinic.

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https://www.mayoclinic.org/diseases-conditions/hemophilia/symptoms-causes/syc-

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Yates, A. (2021, December 2). What You Should Know About Hemophilia. Verywell Health.

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