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Hemophilia is an inherited bleeding, or coagulation, disorder. Children with hemophilia lack the ability to stop bleeding because of the low levels, or complete absence, of specific proteins, called "factors," in their blood that are necessary for clotting. Proper clotting of blood helps prevent excessive bleeding.
In the US, there are about 18,000 people with hemophilia.
There are many factors in the blood that are involved in the function of forming clots to stop bleeding. A child with hemophilia is missing, or has a low supply of, one of the factors needed in order for the blood to clot. Two factors that affect blood clotting are factor VIII and factor IX. Hemophilia is classified by its level of severity. Hemophilia may be mild, moderate, or severe, depending upon the level of the blood clotting factors in the blood.
The three main forms of hemophilia include the following:
Hemophilia types A and B are inherited diseases passed on from a gene located on the X chromosome. Females have two X chromosomes, while males have one X and one Y chromosome. A female carrier of hemophilia has the hemophilia gene on one of her X chromosomes, and there is a 50 percent chance that she may pass the defective gene to her male offspring.
In about one-third of hemophilia cases, there is no family history of the disease. These cases are due to a new or spontaneous development of the defective gene in the female.
The most common symptom of hemophilia is excessive, uncontrollable bleeding because of the missing or low-level clotting factor in the blood. Bleeding may occur even when there is no injury. It most often occurs in the joints and in the head.
The following are the other most common symptoms of hemophilia. However, each individual may experience symptoms differently. Symptoms may include:
The symptoms of hemophilia may resemble other Hematology & Blood Disorders or medical problems. Always consult your physician for a diagnosis.
In addition to a complete medical history and physical examination, your physician may perform numerous blood tests including clotting factor levels, a complete blood count (CBC), assessment of bleeding times, and/or DNA (deoxyribonucleic acid) testing.
The most common cause of disability from hemophilia is chronic joint disease, or arthropathy, which is caused by uncontrolled bleeding into the joints.
Hemorrhage, which is a severe internal or external discharge of blood, is a continuing problem.
Specific treatment for hemophilia will be determined by your physician based on:
Treatment may include: