Hemophilia 101: An Overview for Patients

Hemophilia is a rare genetic disorder that keeps blood from clotting properly. Blood clotting, or coagulation, is an important life-saving process in which blood that's flowing from cut or damaged vessels is thickened and congealed -- creating a scab and stopping the loss of blood before the body goes into shock, or possibly dies.

There are several "clotting factors" that are involved in the formation of a clot. People that have inherited hemophilia have a deficiency in producing a factor, or are producing a mutation of a factor. An inefficient clotting process leads to easy bruising, excessive and uncontrolled bleeding, internal bleeding into the joints, and bleeding in the brain.

Many people are not diagnosed with hemophilia until they experience an episode of abnormal bleeding, or until cases of the condition are found in their family history. As a result, mild internal injuries in a hemophiliac could go overlooked until later in life, exposed only through a surgical procedure or trauma.

If you believe you may have inherited the condition, some signs to be aware of are heavy bleeding after minor cuts, excessive nosebleeds, and blood in your urine. Symptoms of bleeding in the brain include chronic headaches, continual vomiting, double-vision, sudden frailty, trouble walking, convulsions, and seizures.

To make the hemophilia diagnosis, your doctor will consider your family history, and will conduct tests that look for a defect of the clotting factors in your blood. Other tests will explore the severity of your bleeding, and the time it takes for your blood to clot.Replacement therapy is the main treatment for people diagnosed with hemophilia. The process involves replacing, by venous injection, the missing or abnormal clotting factors with concentrates of healthy ones.The federal government funds a nationwide network of hemophilia treatment centers (HTCs). These centers are located in many areas of the United States, and provide treatment, education, and support to hemophilia patients, their families, and their health care providers.http://www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia_what....
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