What Is Hemophilia?
Hemophilia (heem-o-FILL-ee-ah) is a rare bleeding disorder in which your 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 internally, especially in your knees, ankles, and elbows. This bleeding can damage your organs or tissues and may be life threatening.
Hemophilia usually is inherited. This means that the disorder is passed from parents to children through the genes.
People born with hemophilia have little or no clotting factor. Clotting factor is a protein need 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 at the site of the injury 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.
This article focuses on inherited hemophilia.
Hemophilia can be mild, moderate, or severe, depending on how much clotting factor is in the 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.
Hemophilia usually occurs in males (with rare exceptions). About 1 in 5,000 males are born with hemophilia each year.
Other Names for Hemophilia
- Classic hemophilia
- Factor VIII deficiency
- Christmas disease
- Factor IX deficiency
What Are the Signs and Symptoms of Hemophilia?
The major signs and symptoms of hemophilia are excessive bleeding and easy bruising.
The extent of bleeding depends on the type and severity of the hemophilia.
Children who have mild hemophilia may not have symptoms unless they have excessive bleeding from a dental procedure, an accident, or surgery. Males who have severe hemophilia may bleed heavily after circumcision.
Bleeding can occur on the body's surface (external bleeding) or inside the body (internal bleeding).
Signs of excessive external bleeding include:
- Bleeding in the mouth from a cut or bite or from cutting or losing a tooth
- Nosebleeds for no obvious reason
- Heavy bleeding from a minor cut
- Bleeding from a cut that resumes after stopping for a short time
Signs of internal bleeding include:
- Blood in the urine (from bleeding in the kidneys or bladder)
- Blood in the stool (from bleeding in the intestines or stomach)
- Large bruises (from bleeding into the large muscles of the body)
Bleeding in the Joints
Bleeding in the knees, elbows, or other joints is another common form of internal bleeding in people who have hemophilia. This bleeding can occur without obvious injury.
At first, the bleeding causes tightness in the joint with no real pain or any visible signs of bleeding. The joint then becomes swollen, hot to touch, and painful to bend.
Swelling continues as bleeding continues. Eventually, movement in the joint is temporarily lost. Pain can be severe. Joint bleeding that isn't quickly treated can permanently damage the joint.
Bleeding in the Brain
Internal bleeding in the brain is a very serious complication of hemophilia that can happen after a simple bump on the head or a more serious injury. The signs and symptoms of bleeding in the brain include:
- Long-lasting, painful headaches or neck pain or stiffness
- Repeated vomiting
- Sleepiness or changes in behavior
- Sudden weakness or clumsiness of the arms or legs or problems walking
- Double vision
- Convulsions or seizures