Hemophilia is an inherited medical condition where the blood does not clot properly. Hemophiliacs – people with hemophilia, lack a protein called a clotting factor that works with platelets to stop bleeding at the site of an injury. People with hemophilia tend to bleed for longer periods of time after an injury and they are more susceptible to internal bleeding.
Excessive bleeding can occur both externally and internally. Signs of excessive external bleeding include bleeding in the mouth from a cut, bite, or tooth loss, spontaneous nosebleeds, heavy bleeding from a minor cut, and prolonged or continued bleeding after bleeding previously ceased. Signs of excessive internal bleeding include blood in the urine or stool and large, deep bruises. Tightness in joints may be the result of bleeding in the knees, elbows, or other joints, and the joints may become swollen, hot to touch, and painful to move.
If bleeding problems are observed or hemophilia is suspected, a physician will first look at family and personal medical histories. A doctor may be able to use this information to identify the genetic origins of hemophilia. A physical examination and blood tests are often ordered as well. Blood tests will provide information on how long it takes for blood to clot, levels of clotting factors, and which clotting factors, if any, are missing. Blood test results can identify the type of hemophilia and how severe it is. For pregnant women who are carriers of hemophilia, doctors are able to test the fetus for the condition as early as 10 weeks into pregnancy.
Hemophilia is treated with replacement therapy, which is the giving or replacing of clotting factors that are too low or missing in a hemophilia patient. Patients receive clotting factors by injection or intravenously. Clotting factor treatments for replacement therapy can be derived from human blood or synthetically produced in a laboratory (called recombinant clotting factors). Some patients will require replacement therapy regularly in order to prevent bleeding, while others may receive treatment only after bleeding begins and remains uncontrollable. The former is called prophylactic therapy and the latter is called demand therapy. Replacement therapies carry risks such as the possibility of developing antibodies, viral infections from
human clotting factors, and damage to joints, muscles, and other body parts if treatment is delayed.