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| Signs and Symptoms of Hemophilia Posted: 07 Apr 2011 06:24 PM PDT Signs and Symptoms of HemophiliaThe 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 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 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. 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
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| Posted: 07 Apr 2011 06:16 PM PDT What Causes Hemophilia? 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. Below are two examples of how the hemophilia gene is inherited.  hemophilia The diagram shows one example of how the hemophilia gene is inherited. In this example, the father doesn’t have hemophilia (that is, he has two normal chromosomes—X and Y). The mother is a carrier of hemophilia (that is, she has one abnormal X chromosome and one normal X chromosome). Each daughter has a 50 percent chance of inheriting the abnormal gene from her mother and being a carrier. Each son has a 50 percent chance of inheriting the abnormal gene from his mother and having hemophilia.
The diagram shows another example of how the hemophilia gene is inherited. In this example, the father has hemophilia (that is, his X chromosome is abnormal). The mother isn’t a hemophilia carrier (that is, she has two normal X chromosomes). Each daughter will inherit the abnormal gene from her father and be a carrier. None of the sons will inherit the abnormal gene from their father, and, therefore, none will have hemophilia. 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 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. Other NamesPrevious NextSigns & Symptoms source What Causes Hemophilia? http://www.nhlbi.nih.gov/
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| Posted: 07 Apr 2011 06:02 PM PDT What Is Hemophilia? 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. 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. 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. 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). source What Is Hemophilia? from http://www.nhlbi.nih.gov
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