And what are some therapy/treatment for hemophilia? Hemophilia (heem-o-FILL-ee-ah) is a rare, inherited bleeding disorder in which your blood doesn鈥檛 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鈥檛 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鈥檙e 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鈥檛 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).
Treatment With Replacement Therapy
The main treatment for hemophilia is called replacement therapy鈥攇iving or replacing the clotting factor that鈥檚 too low or missing. Concentrates of clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are slowly dripped in or injected into a vein.
Clotting factor concentrates can be made from human blood that has been treated to prevent the spread of diseases, such as hepatitis. With the new methods of screening and treating donated blood, the risk of developing an infectious disease from clotting factors taken from human blood is now very small.
To further reduce that risk, you or your child can take clotting factor concentrates that don鈥檛 use human blood. These are called recombinant clotting factors. Clotting factors are easy to store, mix, and use at home鈥攊t takes only about 15 minutes to receive the factor.
You may have replacement therapy on a regular basis to prevent bleeding. This is called 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. Therapy that鈥檚 given as needed is less intensive and less expensive than preventive therapy. However, there is a risk that bleeding will cause damage before the as-needed treatment is given.
Complications of Replacement Therapy
Complications of replacement therapy include:
Developing antibodies, which are proteins that act against the clotting factors
Developing viral infections from human clotting factors
Damage to joints, muscles, or other parts of the body resulting from delays in treatment
Antibodies to the clotting factor. Antibodies destroy the clotting factor before it has a chance to work. This is a very serious problem, because it makes the main treatment for hemophilia鈥攔eplacing clotting factors鈥攏o longer effective.
Antibodies to clotting factor develop in about 20 percent of people with severe hemophilia A and 1 percent of people with hemophilia B.
When antibodies develop, doctors may use larger doses of clotting factors or try different sources of the clotting factor. Sometimes, the antibodies go away. Researchers are studying ways to deal with antibodies to clotting factors.
Viruses from human blood factors. The viruses that cause AIDS (HIV) and hepatitis can be carried in clotting factors. However, there has been no documented case of these viruses being transmitted during replacement therapy for about a decade. Transmission of viruses has been prevented by:
Careful screening of blood donors
Testing of donated blood products
Treating donated blood products with a detergent and heat to destroy viruses
Vaccinating people with hemophilia for hepatitis A and B
Researchers continue to find ways to make blood products safer.
Home Treatment With Replacement Therapy
Both preventive and as-needed 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 treatment quicker 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.
Home treatment helps children accept treatment and take responsibility for their own health.
Discuss options for home treatment with your doctor or your child鈥檚 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 under 鈥淟iving With Hemophilia鈥?.
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 with mild to moderate hemophilia A. DDAVP can鈥檛 be used to treat hemophilia B or severe hemophilia A.
DDAVP stimulates the release of stored factor VIII and von Willebrand factor and increases the level of these proteins in your blood. Von Willebrand factor carries and binds factor VIII, which then can stay in the bloodstream longer.
DDAVP usually is given by injection or in a nasal spray. Because the effect of this medicine wears off when used often, it鈥檚 given only in certain situations. For example, your doctor may have you 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 clots from breaking down. They鈥檙e most often used:
Before dental work
For treating bleeding from the mouth or nose
For mild intestinal bleeding
Gene Therapy
Researchers are trying to develop ways to correct the defective genes that cause hemophilia to cure the disorder. Such gene therapy hasn鈥檛 yet developed to the point that it鈥檚 an accepted treatment. But researchers continue to test gene therapies for hemophilia in clinical trials.
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, what activities you will be doing, and what dental or medical procedures you will be having.
Mild hemophilia鈥擱eplacement therapy isn鈥檛 usually needed for mild hemophilia. But DDAVP is sometimes given to raise the body鈥檚 levels of factor VIII.
Moderate hemophilia鈥擸ou may need replacement therapy only when bleeding occurs or to prevent bleeding that could occur when participating in some activity. DDAVP is another treatment option on occasion, prior to having a procedure or doing an activity that increases the risk of bleeding.
Severe hemophilia鈥擸ou usually need replacement therapy to prevent bleeding that could cause permanent damage to your joints, muscles, or other parts of the body. Typically, replacement therapy is given at home two or three times a week. It may be needed on a long-term basis or just for short periods when you expect to do an activity that might increase your risk of bleeding. However, some people with severe hemophilia receive treatment only when bleeding occurs.
For all types of hemophilia, getting treatment quickly 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 with hemophilia. Children sometimes ignore signs of bleeding because they want to avoid the discomfort of treatment. Hemophilias are common hereditary bleeding disorders caused by deficiencies of either clotting factor VIII (Hemophilia-A)or IX (Hemophilia-B). The extent of factor deficiency determines the probability and severity of bleeding. Bleeding into deep tissues or joints usually develops within hours of trauma. The diagnosis is suspected in a patient with an elevated PTT and normal PT and platelet count; it is confirmed by specific factor assays. Treatment includes replacement of the deficient factor if acute bleeding is suspected, confirmed, or likely to develop (eg, before surgery).
Von Willebrand disease is caused by a deficiency of von Willebrand factor. Von Willebrand factor helps platelets to clump together and stick to the blood vessel wall, which is necessary for normal blood clotting.
Von Willebrand disease affects both men and women. Most cases are mild. Bleeding may occur after surgery or when you have a tooth pulled. Aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) can make this condition worse. Bleeding may decrease during pregnancy.
A family history of a bleeding disorder is the primary risk factor. In women with heavy or prolonged menstrual bleeding, von Willebrand is more common in Caucasian women than African American women. |
