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What is hemophilia?

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Hemophilia is a genetic condition in which the blood does not clot as it should due to a lack of sufficient clotting factor protein.

A person with hemophilia will bleed for an extended duration of time after injury. They may have small cuts that do not pose a problem with bleeding; however, one of the more significant concerns is bleeding internally. This can damage organs and tissue, and it can lead to death.

There are two types of hemophilia. They are hemophilia A — also known as classic hemophilia or Factor VIII deficiency — and hemophilia B, also known as Christmas disease or Factor IX deficiency.

Hemophilia can be mild, moderate or severe. People with severe hemophilia A have a Factor VIII activity of less than 1%, whereas those without hemophilia have Factor VIII activity of 100%.

Hemophilia is caused by a defect in the inherited gene located on the X chromosome that determines how the body produces blood clotting Factor VIII or IX. It is more common among males. Nearly 1 in 5,000 males are born with hemophilia each year. Children who are born with severe hemophilia often are diagnosed within the first year of life. Mild hemophilia may not be diagnosed until adulthood.

Symptoms of hemophilia may include excessive bleeding or easy bruising. Bleeding may be external or internal.

Signs of abnormal external bleeding may include:

• Bleeding from a cut that resumes after stopping for a short time;

• Bleeding in the mouth from a cut or bite;

• Heavy bleeding from a minor cut; and

• Nosebleeds for no obvious reason.

Signs of internal bleeding may include:

• Blood in the stool or urine;

• Bleeding in the knees, elbows or joints; and

• large bruises.

Internal bleeding in the brain is another serious complication of hemophilia. It may occur after a person bumps their head or experiences a more serious injury. Symptoms of bleeding in the brain include double vision, painful headaches or neck pain, repeated vomiting, sleepiness, sudden weakness or clumsiness of the arms or legs, convulsions or seizures.   

Physical exam and blood tests are used to diagnose hemophilia. Although there is no cure for the condition, treatment and self-care measures allow for patients to maintain an active and productive lifestyle. Replacement therapy is the primary treatment for hemophilia. It involves concentrates of clotting Factor VIII or IX that are injected into the vein. Replacement therapy is more of a preventive measure, whereas on-demand therapy is used only when needed. On-demand therapy is less intensive and less expensive; however, it is associated with the risk that bleeding may cause damage before receipt of therapy.

Additionally, some patients may benefit from desmopressin — a man-made hormone used to treat people who have mild hemophilia A — antifibrinolytic medicines or gene therapy. 

For more information:

www.nhlbi.nih.gov/health/health-topics/topics/hemophilia

www.mayoclinic.org/diseases-conditions/hemophilia/basics/definition/con-20029824