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Hemophilia refers to a group of bleeding disorders in which it takes a long time for the blood to clot.
Hemophilia (heem-o-FILL-ee-ah) is a rare bleeding disorder in which the blood doesn't clot normally.
If you have hemophilia, you may bleed for a longer time than others after an injury. You also may bleed inside your body (internally), especially in your knees, ankles, and elbows. This bleeding can damage your organs and tissues and may be life threatening.
Causes, incidence, and risk factors
When you bleed, the body launches a series of reactions that help the blood clot. This is called the
coagulation cascade. The process involves special proteins called coagulation factors. When one or
more of these clotting factors are missing, there is usually a higher chance of bleeding.
Hemophilia is caused by a lack of enough factor VIII or IX. In most cases, hemophilia is passed
down
through families (inherited). It most often affects males.
Hemophilia usually is inherited. "Inherited" means that the disorder is passed from parents to children through genes.
People born with hemophilia have little or no clotting factor. Clotting factor is a protein needed for normal blood clotting. There are several types of clotting factors. These proteins work with platelets (PLATE-lets) to help the blood clot.
Platelets are small blood cell fragments that form in the bone marrow—a sponge-like tissue in the bones. Platelets play a major role in blood clotting. When blood vessels are injured, clotting factors help platelets stick together to plug cuts and breaks on the vessels and stop bleeding.
The two main types of hemophilia are A and B. If you have hemophilia A, you're missing or have low levels of clotting factor VIII (8). About 9 out of 10 people who have hemophilia have type A. If you have hemophilia B, you're missing or have low levels of clotting factor IX (9).
Rarely, hemophilia can be acquired. "Acquired" means you aren't born with the disorder, but you develop it during your lifetime. This can happen if your body forms antibodies (proteins) that attack the clotting factors in your bloodstream.. The antibodies can prevent the clotting factors from working.
Symptoms
The main symptom of hemophilia is bleeding. Mild cases may go unnoticed until later in life,
when they occur during surgery or after trauma.
In more severe cases, serious bleeding may occur without any cause. Internal bleeding may occur
anywhere.. Bleeding into joints is common.
Hemophilia can be mild, moderate, or severe, depending on how much clotting factor is in your blood. About 7 out of 10 people who have hemophilia A have the severe form of the disorder.
People who don't have hemophilia have a factor VIII activity of 100 percent. People who have severe hemophilia A have a factor VIII activity of less than
1 percent.
1 percent.
Hemophilia usually occurs in males (with rare exceptions). About 1 in 5,000 males are born with hemophilia each year.
Signs and tests
Most often, hemophilia is diagnosed after a person has an abnormal bleeding episode or when
there is a known family history of the condition.
Treatment
Standard treatment involves replacing the missing clotting factor through a vein (intravenous
infusions).
Diagnosing a bleeding disorder is important so that the doctor can take extra care if you need
surgery,
and can test or warn other family members who might be affected.
Expectations (prognosis)
Many people with hemophilia are able to lead pretty normal lives. However, some patients have
major bleeding events, most commonly bleeding into the joint spaces.
A small percentage of people with hemophilia may die from severe bleeding.
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