Hemophilia

By: Carolyn Hayes

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What is Hemophilia?
Hemophilia is a blood disorder where the ability for blood to clot is
severely reduced. This causes the individual afflicted with the disease to
bleed profusely even from the slightest injuries. It is usually caused by
the absence of the coagulation factor in the blood (Factor VIII).

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How is it inherited?
Inherited in an X-linked recessive
pattern

X chromosome is one of the two

sex-linked chromosomes, making
it a sex-linked disease

In males (who only have one X

chromosome) one altered copy of
the gene in each cell is sufficient
to cause the condition IMAGE:url
Prevalence
Affects mostly males

Affects 1 in 5000 male births in the US

Approximately 400 babies are born with hemophilia each year

400,000 people worldwide are living with hemophilia

20,000 people are living with hemophilia in the US

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Diagnosis
Hemophilia is diagnosed with blood tests to determine if clotting
factors are missing or at low levels and which ones are causing the
problem

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Symptoms
Signs and symptoms of hemophilia differ, depending on your level of clotting factors. If your clotting-factor
level is mildly reduced, you may bleed only after surgery or trauma. If your deficiency is severe, you may
experience spontaneous bleeding.

Signs and symptoms of spontaneous bleeding include:

Unexplained and excessive bleeding from cuts or injuries, or after surgery or dental work

Many large or deep bruises

Unusual bleeding after vaccinations

Pain, swelling or tightness in your joints

Blood in your urine or stool

Nosebleeds without a known cause

In infants, unexplained irritability IMAGE:url

Symptoms (continued)
People with hemophilia do not bleed more than people without hemophilia, they just bleed longer. The most
common types of bleeds are into the joints and muscles. Other symptoms include:

Nose bleeds

Prolonged bleeding from minor cuts

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Bleeding that stops and resumes after stopping for only a short time

Blood in the urine

Blood in the stool

Large bruises

Hematomas

Easy bruising (unexplained bruising)

Life Expectancy
Many people die of hemophilia before reaching adulthood without
proper treatment

With proper treatment, life expectancy is approximately 10 years less

of that of an average male

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Limitations
People who have severe hemophilia should avoid contact sports and other activities that are likely to
lead to injuries that could cause bleeding such as: football, hockey, and wrestling.

People who have mild hemophilia can take part in many activities.

Young children who have hemophilia need extra protection from things in the home and elsewhere that
could cause injuries and bleeding (ex. protect toddlers with kneepads, elbow pads, and helmets)

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 Treatment
Hemophilia cannot be cured

Treatments for bleeding episodes depend on the type of

hemophilia:

Mild hemophilia A- Slow injection of the hormone

desmopressin (DDAVP) into a vein can stimulate a release
of more clotting factor to stop bleeding.

Moderate to severe hemophilia A or hemophilia B-

Bleeding may stop only after an infusion of recombinant
clotting factor or clotting factor derived from donated
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human blood. Repeated infusions may be needed if
internal bleeding is severe.

Hemophilia C- Clotting factor XI, the factor missing in this

type of hemophilia, is available only in Europe. In the
New Treatments/ Research
Researchers are working on methods to insert
better functioning VIII or XI factor genes into
the cells of people with hemophilia to IMAGE:url
promote blood clotting

Gene therapy may lead to people having fewer

bleeding episodes and help people produce
their own clotting factor

New technologies are being introduced to

advance hemophilia treatment

Pharmaceutical companies are investigating

genetically manufactured products that are
derive from little to no human blood products
Organizations
Hemophilia Federation of America- Makes treatments more affordable
and helps provide a better quality of life to those suffering from the
disease

National Hemophilia Foundation-Focus on research for

finding/developing a cure for hemophilia

Coalition for Hemophilia B- Support the hemophilia community and

work to better the quality of life of those who are suffering from the
disease

IMAGE: 600 250 - hemophilia.org IMAGE:url

Evolution
Hemophilia continues throughout evolution because it is inherited. Even
though the disease itself is rare, many people can be carriers of the
gene. Genetic engineering/epigenetics could play a vital role in possibly
curing the disease. This could be done by altering the mutated DNA,
linked to the X chromosome. However, epigenetics is still a
controversial area of research.

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Interesting Facts

Hemophilia B Leyden, a rare form of

Hemophilia B causes excessive
bleeding in young children, but little
after they reach puberty.

Another name for Hemophilia B is

Christmas Disease because the
disorder was first reported in a
patient named Stephen Christmas
Bibliography
National Institutes of Health. U.S. Department of Health and Human Services, n.d. Web. 04 May 2017.
<https://www.nhlbi.nih.gov/health/health-topics/topics/hemophilia/livingwith>.

"Frequently Asked Questions." Frequently Asked Questions about Hemophilia - World Federation of Hemophilia. N.p., n.d. Web.
04 May 2017. <https://www.wfh.org/en/page.aspx?pid=637>.

"HemophiliaDiagnosis." UCSF Medical Center. N.p., n.d. Web. 04 May 2017.

<https://www.ucsfhealth.org/conditions/hemophilia/diagnosis.html>.

"What Is Hemophilia?" Hemophilia Federation of America. N.p., n.d. Web. 04 May 2017. <http://www.hemophiliafed.org/bleeding-
disorders/hemophilia/>.

"Hemophilia - Genetics Home Reference." U.S. National Library of Medicine. National Institutes of Health, n.d. Web. 04 May 2017.
<https://ghr.nlm.nih.gov/condition/hemophilia>.

"Hemophilia Symptoms." Mayo Clinic. Mayo Foundation for Medical Education and Research, 26 Sept. 2014. Web. 04 May 2017.
<http://www.mayoclinic.org/diseases-conditions/hemophilia/basics/symptoms/con-20029824>.