What is hemophilia?
Hemophilia is a rare bleeding disorder in which the blood doesn't clot normally. It mainly affects males and is rare in females. Hemophilia is sometimes called “the royal disease.” Several royal families of England, Germany, Russia, and Spain in the 19th and 20th centuries had members afflicted with hemophilia. The reason could have been the consanguineous marriages in the royal families. Hemophilia is usually an inherited condition. People start to see symptoms in their middle age or old age. Sometimes, the condition becomes apparent in young women who recently gave birth or are in the later stages of pregnancy.
The inability of the blood to clot usually results in excessive blood loss after an injury or during surgery. There can also be spontaneous bleeding at various sites in the body. Bleeding at vital sites, such as in the brain, can lead to serious and potentially fatal complications. In this condition, there is a deficiency of certain proteins called clotting factors in the blood. These clotting factors are responsible for the normal blood clotting in response to an injury. They are designated by Roman numbers (for example, factor VIII and factor IX). The severity of this disease depends on the amount of clotting factors present in the blood. Thus, the lower the concentration of clotting factors, the severe will be the bleeding tendencies.
Treatment depends on the type and severity of hemophilia. The treatment aims to prevent bleeding episodes mainly inside the head and the joints. The use of gene therapy to replace the defective genes is currently under study. Blood transfusions may be required in case of significant blood loss.