HemophiliaThe fear of a knick

Hemophilia; DefinitionHemophilia 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.

Hemophilia AIf it is the factor VIII that is missing one speaks of hemophilia A, 4 times more common than hemophilia B.

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.

There are different levels of severity to hemophilia.

It is severe if the rate of factor VIII 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).

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.

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.

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.

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.