Hemophilia 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.
Hemophilia is usually inherited. 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
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, meaning 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.
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.
Hemophilia usually occurs in males (with rare exceptions). About 1 in 5,000 males are born with hemophilia each year.
Very rarely, a girl is born with hemophilia. This can happen if her father has hemophilia and her mother is a carrier.
Some males who have the disorder are born to mothers who aren't carriers. In these cases, a mutation (random change) occurs in the gene as it is passed to the child.
The major signs and symptoms of hemophilia are excessive bleeding and easy bruising.
Bleeding can occur on the body's surface (external bleeding) or inside the body (internal bleeding).
Signs of external bleeding may 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 may 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 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 treated quickly can damage the joint.
Internal bleeding in the brain is a very serious complication of hemophilia. It 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
Severe hemophilia can cause serious bleeding problems in babies. Thus, children who have severe hemophilia usually are diagnosed during the first year of life. People who have milder forms of hemophilia may not be diagnosed until they're adults.
The bleeding problems of hemophilia A and hemophilia B are the same. Only special blood tests can tell which type of the disorder you or your child has. Knowing which type is important because the treatments are different.
Pregnant women who are known hemophilia carriers can have the disorder diagnosed in their unborn babies as early as 10 weeks into their pregnancies.
Treatment With Replacement Therapy
The main treatment for hemophilia is called replacement therapy. Concentrates of clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are slowly dripped or injected into a vein. These infusions help replace the clotting factor that's missing or low.
Clotting factor concentrates can be made from human blood. The blood is treated to prevent the spread of diseases, such as hepatitis. With the current methods of screening and treating donated blood, the risk of getting an infectious disease from human clotting factors is very small.
To further reduce the risk, you or your child can take clotting factor concentrates that aren't made from human blood. These are called recombinant clotting factors. Clotting factors are easy to store, mix, and use at home—it only takes about 15 minutes to receive the factor.
You may have replacement therapy on a regular basis to prevent bleeding. Or, you may only need replacement therapy to stop bleeding when it occurs. This use of the treatment, on an as-needed basis, is called demand therapy.
Demand therapy is less intensive and expensive than preventive therapy. However, there's a risk that bleeding will cause damage before you receive the demand therapy.
Complications of replacement therapy include:
- Developing antibodies (proteins) that attack the clotting factor
- Developing viral infections from human clotting factors
- Damage to joints, muscles, or other parts of the body resulting from delays in treatment
*Information from National Institutes of Health (NIH)