Hemophilia is an inherited bleeding disorder in which the blood does not clot properly. This can lead to spontaneous bleeding as well as bleeding following injuries or surgery. Because the genetic mutation that causes hemophilia is carried in the X chromosome, men are more severely affected. However, some women (referred to as carriers of the hemophilia gene mutation) can also be affected.
Blood contains many proteins called clotting factors that help to stop bleeding. People with hemophilia have low levels of either factor VIII (8) or factor IX (9). Depending on how much clotting factor is in the blood, a person’s hemophilia may be mild, moderate, or severe.
The two most common types of hemophilia are:
Hemophilia B (Christmas Disease) - This type is caused by a lack or decrease of clotting factor IX.
Hemophilia occurs in about 1 of every 5,000 male births. Currently, about 20,000 U.S. males are living with the disorder. Hemophilia A is about four times as common as hemophilia B and about half of those affected by Hemophilia A have the severe form of the disorder. Hemophilia affects people from all racial and ethnic groups.
The severity of hemophilia that a person has is determined by the level of the clotting factor in the blood. The lower the clotting level, the more likely it is that bleeding will occur that may lead to more serious complications.
Hemophilia can result in:
Bleeding in the head and sometimes in the brain, which can cause long-term problems such as seizures and paralysis
Death can occur if the bleeding cannot be stopped or if it occurs in a vital organ such as the brain
The best way to treat hemophilia is to replace the missing blood clotting factor so that the blood can clot properly. This is done by infusing (giving medication by injection into a vein) commercially prepared factor concentrates. People with hemophilia can learn how to perform these infusions themselves so that they can stop bleeding episodes. By performing the infusions on a regular basis, people with hemophilia can also prevent most bleeding episodes.
Hemophilia is a complex disorder. Good quality medical care provided by doctors and nurses knowledgable about the disorder can help prevent serious problems. Often the best choice for this care is to visit a comprehensive Hemophilia Treatment Center (HTC). An HTC provides care to address all issues related to the disorder, and also, provides education that helps people with hemophilia stay healthy.
