Hemophilia is a hereditary disease in which the blood will not clot normally. If normal person receives a cut or other injury, blood flowing from cut rapidly forms a clot that serves to stop the bleeding. When a hemophiliac receives a cut or other injury, he may bleed for hours or even days.
There are two basic types of hemophilia, a person with hemophilia A have little to no clotting factor VIII (8). While a person with hemophilia B have a missing or low levels of clotting factor IX (9). In both types a gene is defective; the defective gene interferes with the ability of the body to produce the clotting factors that allow for normal clotting. Although some hemophiliacs live fairly normal lives, others are severely weak and many die prematurely. Hemophilia A occurs in 1 in 10,000 people and Hemophilia B occurs in 1 in 40,000 people.
Causes: Both hemophilia A and hemophilia B are inherited diseases that are transmitted from one generation to the next by a recessive gene located on the X chromosomes. Nearly all hemophiliacs are men, because men have only one X chromosome, the effect of a recessive gene on the chromosome cannot be counterbalanced. Women have two X chromosomes, so that even if a woman carries a gene for hemophilia on X chromosome, it is very likely that her other X chromosome will carry a gene, which is dominant, will prevent her from having the disease, therefore hemophilia is extremely rare in women, but a woman carrying a gene for the disease may transmit it to her sons, and her daughters may transmit it to their sons. The transmission of this gene to offspring accounts for 70% of the cases of hemophilia. The remaining 30% occur from spontaneous changes in genes responsible for causing hemophilia.
Treatments: There no real satisfactory treatment for hemophilia, therefore patients should avoid even minor injuries.
- Patients with hemophilia A will respond to treatment only with fresh or freshly frozen blood plasma or with special concentrates of AHG, the particular clotting factor they need.
- Patients with hemophilia B will respond to stored plasma and frozen plasma as well as concentrates of the missing clotting factor.
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