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What Is Hemophilia?
Hemophilia (heem-o-FILL-ee-ah) is a rare, inherited 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, sometimes, be fatal.
People born with hemophilia have little to none of a protein needed for normal blood clotting. The protein is called a clotting factor. There are several types of clotting factors, and they work together with platelets to help the blood clot. Platelets are small pieces of blood cells that are formed in the bone marrow. They play a major role in blood clotting.
When blood vessels are injured, clotting factors help the platelets stick together to plug cuts and breaks at the site of the injury to stop the bleeding. Without clotting factors, normal blood clotting can’t take place. Sometimes people with hemophilia need injections of a clotting factor or factors to stop bleeding.
There are two main types of hemophilia. If you have hemophilia A, you have little to no clotting factor VIII (8). About 9 out of 10 people with hemophilia have type A. If you have hemophilia B, you’re missing or have low levels of clotting factor IX (9).
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.
In addition to being inherited, hemophilia also can be acquired, which means that you can develop it during your lifetime. It can develop if your body forms antibodies to the clotting factors in your bloodstream. The antibodies can block the clotting factors from working. Only inherited hemophilia is discussed in this article.
About 18,000 people in the United States have hemophilia. Each year, about
400 babies are born with the disorder. Hemophilia usually occurs only in males (with very rare exceptions).
Other Names for Hemophilia
Hemophilia A
- Classic hemophilia
- Factor VIII deficiency
Hemophilia B
- Christmas disease
- Factor IX deficiency
What Causes Hemophilia?
If you have inherited hemophilia, you’re born with the condition. It’s caused by a defect in one of the genes that determine how the body makes blood clotting factors VIII or IX. These genes are located on the X chromosomes (KRO-muh-somz).
Chromosomes come in pairs. Females have two X chromosomes, while males have one X and one Y chromosome. Only the X chromosome carries the genes related to clotting factors.
A male who has the abnormal gene on his X chromosome will have hemophilia. A female must have the abnormal gene on both of her X chromosomes to have hemophilia; this is very rare.
A female is a “carrier” of hemophilia if she has the abnormal gene on one of her X chromosomes. Even though she doesn’t have the condition, she can pass the gene on to her children.
Females who are carriers usually have enough clotting factors from their one normal X chromosome to prevent serious bleeding problems.
Very rarely, a girl is born with hemophilia. This can happen if her father has hemophilia and her mother is a carrier.
Some males with 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.
What Are the Signs and Symptoms of Hemophilia?
The major signs and symptoms of hemophilia are excessive bleeding and easy bruising.
Excessive Bleeding
The extent of bleeding depends on the type and severity of the hemophilia. Children with mild hemophilia may not have symptoms until they have excessive bleeding from a dental procedure, an accident, or surgery. Males with severe hemophilia may bleed heavily after circumcision. Bleeding can be obvious (external bleeding) or hidden within 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) and blood in the stool (from bleeding in the intestines or stomach).
Bleeding in the Joints
Bleeding in the knees, elbows, or other joints is another common form of internal bleeding in people with hemophilia. This can occur without obvious injury. At first, this 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, and 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
- Changes in behavior or being very sleepy
- Sudden weakness or clumsiness of the arms or legs or difficulty walking
- Double vision
- Convulsions or seizures
To read the rest of this article from the National Heart,
Lung and Blood Institute, please click here: http://www.nhlbi.nih.gov/health/dci/Diseases/hemophilia/hemophilia_what.html
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