Hemophilia

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Hemophilia is a rare disorder in which your blood doesn’t clot normally because it lacks sufficient blood-clotting proteins (clotting factors). If you have hemophilia, you may bleed for a longer time after an injury than you would if your blood clotted normally.

Small cuts usually aren’t much of a problem. The greater health concern is deep bleeding inside your body, especially in your knees, ankles and elbows. That internal bleeding can damage your organs and tissues, and may be life-threatening.

Hemophilia is an inherited (genetic) disorder. Treatment includes regular replacement of the specific clotting factor that is reduced.

Signs and symptoms of hemophilia vary, depending on your level of clotting factors. If your clotting-factor level is mildly reduced, you may bleed only after surgery or trauma. If your deficiency is severe, you may experience spontaneous bleeding.

Signs and symptoms of spontaneous bleeding include:

A simple bump on the head can cause bleeding into the brain for some people who have severe hemophilia. This rarely happens, but it’s one of the most serious complications that can occur. Signs and symptoms include:

Seek emergency care if you or your child experiences:

If you have a family history of hemophilia, you may want to undergo genetic testing to see if you’re a carrier of the disease before you start a family.

When you bleed, your body normally pools blood cells together to form a clot to stop the bleeding. The clotting process is encouraged by certain blood particles. Hemophilia occurs when you have a deficiency in one of these clotting factors.

There are several types of hemophilia, and most forms are inherited. However, about 30 percent of people with hemophilia have no family history of the disorder. In these people, an unexpected change (spontaneous mutation) occurs in one of the genes associated with hemophilia.

Acquired hemophilia is a rare variety of the condition that occurs when a person’s immune system attacks clotting factors in the blood. It can be associated with:

In the most common types of hemophilia, the faulty gene is located on the X chromosome. Everyone has two sex chromosomes, one from each parent. A female inherits an X chromosome from her mother and an X chromosome from her father. A male inherits an X chromosome from his mother and a Y chromosome from his father.

This means that hemophilia almost always occurs in boys and is passed from mother to son through one of the mother’s genes. Most women with the defective gene are simply carriers and experience no signs or symptoms of hemophilia. But some carriers can experience bleeding symptoms if their clotting factors are moderately decreased.

Complications of hemophilia may include:

Hemophilia care at Mayo Clinic

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Hemophilia

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