What is Hemophilia?

Hemophilia is a bleeding disorder in which blood cannot clot normally. After an injury, people who have hemophilia bleed longer because they lack certain blood proteins that are responsible for clotting, called clotting factors. Some hemophiliacs are mildly deficient in this protein, so they bleed only when injured or after surgery. Those who are severely deficient, however, may experience symptoms of spontaneous bleeding, including the following:

  • Presence of blood in stool or urine
  • Frequent nosebleeds or large bruises
  • Unusual bleeding after being vaccinated
  • Pain, swelling, or tightness in joints
Most people with hemophilia have a family history of the disorder, though about 30% do not. The most common forms are hemophilia A (classic hemophilia) and hemophilia B (Christmas disease). Hemophilia A and B share certain characteristics, but different genes are involved. Acquired hemophilia is very rare and has been linked to autoimmune conditions, cancer, and multiple sclerosis.

Hemophilia may be diagnosed using a blood test. If there is family history of the disorder, testing may be done prenatally. Treatment involves regular intravenous replacement of clotting factors, which may be produced in a laboratory (recombinant) or come from blood donors. For people with milder forms of the disease, a hormone called desmopressin may stimulate the body to produce clotting factors. Other drug therapies include medications that help slow the breakdown of blood clots and medications that are applied directly to the wound to promote clotting.

Living with hemophilia can be challenging, but simple things may help prevent excessive bleeding. For example, choosing activities like walking or swimming over contact sports can prevent injuries and strengthen muscles while protecting the joints. Chances for bleeding may also be reduced by making sure that children wear helmets and elbow pads during activities like bicycle rides.

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