Hemophilia

Hemophilia

Signs and Symptoms
Diagnosis
Treatment

Signs and Symptoms

Hemophilia is caused by a genetic mutation, which is a change in the gene for factor VIII or factor IX. This occurs on the X chromosome that contains genetic information in human cells. If there is a family history of hemophilia, the mother is a carrier and her son will have the type of hemophilia as her relatives. If there is no family history of hemophilia, the child's hemophilia is due to a new mutation and the mother may or may not be a carrier.

Hemophilia may occur in mild, moderate and severe forms, based on both clinical symptoms and the level or amount of clotting factor in the blood.

• An individual with mild hemophilia has 6 percent to 49 percent factor level and usually has problems with bleeding only after serious injury, trauma or surgery. In many cases, mild hemophilia is not discovered until a major injury, surgery or tooth extraction results in unusual bleeding. The first episode may not occur until adulthood.

• An individual with moderate hemophilia has 1 percent to 5 percent factor level and has bleeding episodes after injuries, major trauma or surgery. He also may experience occasional bleeding without obvious cause. These are called spontaneous bleeding episodes.

• An individual with severe hemophilia has less than 1 percent factor level and has bleeding following an injury or surgery, and may have frequent spontaneous bleeding episodes into the joints and muscles.

A person's severity of hemophilia does not change over time because factor level is determined by the genetic mutation causing hemophilia. If a person's cells cannot make clotting factor when he is young, he will never have the ability to make clotting factor.

Symptoms

The most common symptom of hemophilia is bleeding, especially into the joints and muscles. When a child with hemophilia is injured, he does not bleed faster than a child without hemophilia. He bleeds longer. He may also start bleeding again several days after an injury or surgery. Small cuts or surface bruises usually are not a problem, but deeper injuries may result in bleeding episodes that may cause serious problems and lead to permanent disability unless treated promptly.

Symptoms of hemophilic bleeding depend on where the bleeding occurs. Infants may have bleeding from their mouth when they are cutting teeth, bite their tongue or tear tissue in their mouth. Toddlers and older children commonly have bleeding into muscles and joints. Symptoms of bleeding include pain, swelling, loss of range of motion and an inability to move or use the affected arm or leg. Usually there is no bruising or discoloration of the skin to indicate that the swelling and pain are due to blood.

Another symptom of hemophilia is easy bruising. Children with hemophilia may have many bruises of different sizes all over their bodies. Other symptoms of bleeding may be a prolonged nosebleed or vomiting of blood.

Reviewed by health care specialists at UCSF Children's Hospital.
Last updated May 8, 2007