Hemophilia

is a bleeding disease thata occurs almost exclusively in males.In 85 percent of cases, it is caused by an abnormality or deficiency of Factor VIII; this type of hemophilia is called hemophillia A or classic hemophilia.

About 1 of every 10,000 males in the United States has classic hemophilia.In the other 15 percent of hemophilia patients , the bleeding tendency is caused by deficiency of Factor IX.Both of these factors are transmitted genetically by way of the female chromosome.Therefore, almost never will a woman have hemophilia because al least one of her two X chromosomes will have the appropriate genes.If one of her X chromosome is deficient, she will be a hemophilic carrier , transmitting the disease to half of her male offspring and transmitting the carrier state to half of her female offspring.

The bleeding trait in hemophilia can have various degree of severity, depending on the character of the genetic deficiency. Bleeding usually does not occur except after trauma, but in some patients, the degree of trauma required to cause severe aand prolonged bleeding maay be so mild that it is hardly noticeable.For instance, bleeding can often last days after extraction of a tooth.

Factor VIII hs two active components, a large component with a molecular weight in the millions and a smaller component with a molecular weight of about 230,000. The smaller component is most important in the intrinsic pathway for clotting and it is deficiency of this part of Factor VIII that cause classic hemophilia.Another bleeding disease with somewhat different characteristics, called von Willbrand's disease, results from loss of the large component.

When a person with classic hemophilia experiences severe prolonged bleeding, almost the only therapy that is truly effective is injection of purified Factor VIII. The cost of Factor VIII is high, and its availability is limited because it can be gathered only from human blood and only in extremely small quantities.

Treatment of hemophilia