Hemophilia is a bleeding disorder more common in males, characterized by prolonged bleeding due to mutations in clotting factor genes, specifically factor VIII for hemophilia A and factor IX for hemophilia B. Symptoms can range from easy bruising to serious joint or internal bleeding, and diagnosis involves measuring clotting activity and genetic testing. While there is no cure, treatments include factor infusions and potential gene therapy, significantly improving life expectancy and quality for patients.

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Health Topics
Hemophilia
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2. Overview
Hemophilia is a bleeding disorder that slows down
the blood clotting process. People who have
hemophilia often have longer bleeding after an
injury or surgery. People who have severe
hemophilia have spontaneous bleeding into the
joints and muscles. Hemophilia occurs more
commonly in males than in females.The two most
common types of hemophilia are hemophilia A
(also known as classic hemophilia) and hemophilia
B (also known as Christmas disease). People who
have hemophilia A have low levels of a
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3. Overview
The two types of hemophilia are caused by
permanent gene changes (mutations) in different
genes. Mutations in the FVIII gene cause
hemophilia A. Mutations in the FIX gene cause
hemophilia B. Proteins made by these genes have
an important role in the blood clotting process.
Mutations in either gene keep clots from forming
when there is an injury, causing too much bleeding
that can be difficult to stop
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4. Overview
Hemophilia A is the most common type of this
condition. One in 5,000 to 10,000 males worldwide
have hemophilia A. Hemophilia B is less common,
and it affects 1 in 20,000 to 34,500 males
worldwide.
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5. Symptoms
Symptoms of hemophilia include prolonged oozing
after injuries, tooth extractions or surgery;
renewed bleeding after initial bleeding has
stopped; easy or spontaneous bruising; and
prolonged bleeding.
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6. Symptoms
In both severe hemophilia A and severe
hemophilia B, the most frequent symptom is
spontaneous joint bleeding. Other serious sites of
bleeding include the bowel, the brain and soft
tissues. These types of bleeding can lead to
throwing up blood or passing blood in the
stool, stroke, and sudden severe pain in the joints
or limbs. Painful bleeding into the soft tissues of
the arms and legs can lead to nerve damage.
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7. Symptoms
Individuals who have severe hemophilia are usually
diagnosed within the first year of life. People who
have moderate hemophilia do not usually have
spontaneous bleeding, but they do have longer
bleeding and oozing after small injuries. They are
usually diagnosed before they reach five or six
years.
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8. Symptoms
Individuals who have mild hemophilia do not have
spontaneous bleeding. If they are not treated they
may have longer bleeding when they have
surgery, teeth removed or major injuries.
Individuals with mild hemophilia may not be
diagnosed until later in life.
National Human Genome Research Institute -
National Institutes of Health:
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9. Symptoms
http://www.genome.gov/20019697
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10. Diagnosis
Hemophilia A and B are diagnosed by measuring
factor clotting activity. Individuals who have
hemophilia A have low factor VIII clotting activity.
Individuals who have hemophilia B have low factor
IX clotting activity.
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11. Diagnosis
Genetic testing is also available for the factor VIII
gene and the factor IX gene. Genetic testing of the
FVIII gene finds a disease-causing mutation in up to
98 percent of individuals who have hemophilia A.
Genetic testing of the FIX gene finds disease-
causing mutations in more than 99 percent of
individuals who have hemophilia B.
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12. Diagnosis
Genetic testing is usually used to identify women
who are carriers of a FVIII or FIX gene
mutation, and to diagnose hemophilia in a fetus
during a pregnancy (prenatal diagnosis). It is
sometimes used to diagnose individuals who have
mild symptoms of hemophilia A or B.
National Human Genome Research Institute -
National Institutes of Health:
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13. Treatment
There is currently no cure for hemophilia.
Treatment depends on the severity of hemophilia.
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14. Treatment
Treatment may involve slow injection of a
medicine called desmopressin (DDAVP) by the
doctor into one of the veins. DDAVP helps to
release more clotting factor to stop the bleeding.
Sometimes, DDAVP is given as a medication that
can be breathed in through the nose (nasal spray).
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15. Treatment
People who have moderate to severe hemophilia A
or B may need to have an infusion of clotting factor
taken from donated human blood or from
genetically engineered products called
recombinant clotting factors to stop the bleeding.
If the potential for bleeding is serious, a doctor
may give infusions of clotting factor to avoid
bleeding (preventive infusions) before the bleeding
begins. Repeated infusions may be necessary if the
internal bleeding is serious.
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16. Treatment
When bleeding has damaged joints, physical
therapy is used to help them function better.
Physical therapy helps to keep the joints moving
and prevents the joints from becoming frozen or
badly deformed. Sometimes the bleeding into
joints damages them or destroys them. In this
situation, the individual may be given an artificial
joint.
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17. Treatment
When a person who has hemophilia has a small cut
or scrape, using pressure and a bandage will take
care of the wound. An ice pack can be used when
there are small areas of bleeding under the skin.
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18. Treatment
Researchers have been working to develop a gene
replacement treatment (gene therapy) for
Hemophilia A. Research of gene therapy for
hemophilia A is now taking place. The results are
encouraging. Researchers continue to evaluate the
long-term safety of gene therapies. The hope is
that there will be a genetic cure for hemophilia in
the future.
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19. Treatment
Individuals who have hemophilia A and B are living
much longer and with less disability than they did
30 years ago. This is because of the use of the
intravenous infusion of factor VIII
concentrate, home infusion programs, prophylactic
treatment, and improved patient education.
National Human Genome Research Institute -
National Institutes of Health:
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20. Causes
**Is hemophilia inherited?**
Hemophilia is inherited in an X-linked recessive
pattern. A condition is considered X-linked when
gene mutation that causes it is located on the X
chromosome, one of the two sex chromosomes. In
males (who have only one X chromosome), one
altered copy of the gene in each cell is enough to
cause the condition. Since females have two X
chromosomes, a mutation must be present in both
copies of the gene to cause the hemophilia. Males
are affected by X-linked recessive disorders much
more frequently t
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21. Causes
**Is hemophilia inherited?**
A female who is a carrier has a 1 in 2 (50 percent)
chance to pass on her X chromosome with the
gene mutation for hemophilia A or B to a boy who
will be affected. She has a 1 in 2 (50 percent)
chance to pass on her X chromosome with the
normally functioning gene to a boy who will not
have hemophilia.
National Human Genome Research Institute -
National Institutes of Health:
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