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. Overview 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 marrowa 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. Without clotting factors, normal blood clotting can't take place. Some people who have 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'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. This means that you can develop it during your lifetime. This can happen if your body forms antibodies (proteins) to the clotting factors in your bloodstream. The antibodies can prevent the clotting factors from working. Outlook 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. 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). 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 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) 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 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

have mild hemophilia may have bleeding problems almost as often or as problematic as some people who have moderate hemophilia. Severe hemophilia can cause serious bleeding problems in babies. Therefore, 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 a person 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 children as early as 10 weeks into their pregnancies. Women who are hemophilia carriers also can have "preimplantation diagnosis" to have children who don't have hemophilia. For this process, women have their eggs removed and then fertilized by sperm in a laboratory. The embryos that result from this fertilization are then tested for hemophilia. Only embryos that lack the condition will be implanted in the womb. How Is Hemophilia Treated? 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 in 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 that has been 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 that risk, you or your child can take clotting factor concentrates that don't use human blood. These are called recombinant clotting factors. Clotting factors are easy to store, mix, and use at homeit only takes about 15 minutes to receive the factor. You may have replacement therapy on a regular basis to prevent bleeding. This is called

How Is Hemophilia Diagnosed? If hemophilia is suspected, or if you appear to have a bleeding problem, your doctor will take your personal and family medical histories. This will reveal whether you or anyone in your family has a history of frequent and/or heavy bleeding and bruising.

You also will likely have a physical exam and blood tests to diagnose hemophilia. Blood tests are used to find out: How long it takes for your blood to clot Whether your blood has low levels of any of the clotting factors Whether one of the clotting factors is completely missing from your blood

The test results will show whether you have hemophilia, what type of hemophilia you have, and how severe it is. Hemophilia A and B are classified as mild, moderate, or severe, depending on the amount of clotting factor VIII or IX in the blood. Mild hemophilia Moderate hemophilia Severe hemophilia 530 percent of normal clotting factor 15 percent of normal clotting factor Less than 1 percent of normal clotting factor

The severity of symptoms can overlap between the categories. For example, some people who

preventive or prophylactic (PRO-fih-lac-tik) therapy. 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 less expensive than preventive therapy. However, there's a risk that bleeding will cause damage before the demand therapy is given.

Researchers continue to find ways to make blood products safer. Damage to joints, muscles, and other parts of the body. Damage resulting from delays in treatment can include: Bleeding into a joint. If this happens many times, it can lead to changes in the shape of the joint and impair function). Swelling of the membrane around a joint. Pain, swelling, and redness of a joint. Pressure on a joint from swelling, which can destroy the joint.

Complications of Replacement Therapy Complications of replacement therapy include: Developing antibodies (proteins) that act against 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

Home Treatment With Replacement Therapy Both preventive (ongoing) and demand (asneeded) replacement therapy can be done at home. Many people learn to do the infusions at home for their child or for themselves. Home treatment has several advantages: You or your child can get quicker treatment when bleeding happens. Early treatment means that fewer complications are likely to occur. Fewer visits to the doctor or emergency room are needed. Home treatment costs less than treatment in a medical care setting.

Antibodies to the clotting factor. Antibodies can destroy the clotting factor before it has a chance to work. This is a very serious problem. It prevents the main treatment for hemophilia (replacement therapy) from working. Antibodies to clotting factor, also called inhibitors, develop in about 20 percent of people who have severe hemophilia A and 1 percent of people who have hemophilia B. When antibodies develop, doctors may use larger doses of clotting factor or try different clotting factor sources. Sometimes, the antibodies go away. Researchers are studying ways to deal with antibodies to clotting factors. They also are studying whether a larger single-dose of clotting factor may be better than repeated, smaller doses for some patients. Viruses from human blood factors. Clotting factors can carry the viruses that cause HIV/AIDS and hepatitis. However, the risk of getting an infectious disease from human clotting factors is very small due to: Careful screening of blood donors Testing of donated blood products Treating donated blood products with a detergent and heat to destroy viruses Vaccinating people who have hemophilia for hepatitis A and B

Home treatment helps children accept treatment and take responsibility for their own health.

Discuss options for home treatment with your doctor or your child's doctor. A doctor or other health care provider can teach you the steps and safety procedures for home treatment. Another valuable resource for learning about home treatment is hemophilia treatment centers (discussed in "Living With Hemophilia"). Vein access devices can be surgically implanted to make it easier to get into a vein for treatment with replacement therapy. These devices can be

helpful when such treatment occurs often. However, infections can be a problem with these devices. Your doctor can help you decide whether this type of device is right for you or your child. Other Types of Treatment Desmopressin Desmopressin (DDAVP) is a man-made hormone used to treat people who have mild to moderate hemophilia A. DDAVP isn't used to treat hemophilia B or severe hemophilia A. DDAVP stimulates the release of stored factor VIII and von Willebrand factor; it also increases the level of these proteins in your blood. Von Willebrand factor carries and binds factor VIII, which can then stay in the bloodstream longer. DDAVP usually is given by injection or as nasal spray. Because the effect of this medicine wears off when used often, it's given only in certain situations. For example, you may take this medicine prior to dental work or before playing certain sports to prevent or reduce bleeding. Antifibrinolytic Medicines Antifibrinolytic medicines (including tranexamic acid and aminocaproic acid) may be used with replacement therapy. They're usually given as a pill, and they help keep blood clots from breaking down These medicines most often are used before dental work or to treat bleeding from the mouth or nose or mild intestinal bleeding. Gene Therapy Researchers are trying to find ways to correct the faulty genes that cause hemophilia. Such gene therapy hasn't yet developed to the point that it's an accepted treatment. But researchers continue to test gene therapies for hemophilia in clinical trials.

Mild hemophiliaReplacement therapy usually isn't needed for mild hemophilia. But DDAVP sometimes is given to raise the body's level of factor VIII. Moderate hemophiliaYou may need replacement therapy only when bleeding occurs or to prevent bleeding that could occur when doing certain activities. Your doctor also may recommend DDAVP prior to having a procedure or doing an activity that increases the risk of bleeding. Severe hemophiliaYou usually need replacement therapy to prevent bleeding that could cause permanent damage to your joints, muscles, or other parts of your body. Typically, replacement therapy is given at home two or three times a week. This preventive therapy usually is started in patients at a young age and may need to continue for life.

For all types of hemophilia, getting quick treatment for bleeding to limit damage is important. Learn to recognize signs of bleeding. Family members also should learn to watch for signs of bleeding in a child who has hemophilia. Children sometimes ignore signs of bleeding because they want to avoid the discomfort of treatment.

Which Treatment Is Best for You? The type of treatment you or your child receives depends on several things, including how severe the hemophilia is, the activities you'll be doing, and the dental or medical procedures you'll be having.