2. Hemophilia; Definition
Hemophilia is an inherited bleeding disorder due to the absence
or deficiency of coagulation factor VIII or IX. The genes are
located on the X chromosome.
3. Hemophilia A
If it is the factorVIII that is missing
one speaks of hemophilia A, 4
times more common than
hemophilia B.
4. Hemophilia B
• If the factor IX is missing one speaks of hemophilia B.
Hemophilic people fail to form a solid clot during the clotting
process that follows a wound. In some cases they might bleed
to death without medical assistance.
5. There are different levels of severity to hemophilia.
It is severe if the rate of factorVIII
or IX is less than 1% (50% of cases),
moderate if it is between 1 and 5%
(10 to 20% of cases), minor
between 6 and 30% (30 to 40% of
cases).
6. Males are the most afflicted.
• There is a boy in 5000 born with hemophilia A, worldwide.
While 1 boy in 25,000 is born with hemophilia B or about a
case of hemophilia B for 5 cases of hemophilia A.
• Hemophilia affects mostly boys, from birth. Girls may be
reached only in the rare case that their father has hemophilia
and the mother is a carrier of the gene or in the rare case of
normal X chromosome inactivation.
7. Why boys?
• In girls, who generally have two X chromosomes, the
abnormal gene on one X chromosome is usually completely or
partially compensated by the other X chromosome, healthy.
They will not become sick, but they can pass the anomaly on
to their offspring.The boys cannot compensate for the
abnormal gene located on the X chromosome.
8. In 30% of cases there is no family history of
hemophilia.
This is called a new mutation.This newly appearing mutation
may have occurred in the mother’s egg or the sperm of the
father, or later in the fetus itself.This mutation will be
transmitted to the offspring.
9. Is there a treatment for this disease?
• There is an effective treatment to reduce the risk of bleeding
or to treat a bleeding, although it is impossible at present to
cure hemophilia.The treatment is administering intravenously
the defective clotting factor.These substitutes can be derived
from human blood or produced by genetic engineering called
recombinant, clotting factors or plasma.
