Hemophilia is a bleeding disorder that has several specific causes. Classic Hemophilia, or Hemophilia A, is produced by a deficiency of a blood-clotting factor, factor VIII. Hemophilia B, or Christmas disease, occurs because factor IX is deficient. These diseases are frequently genetic. In these situations, the symptoms usually occur only in the males. New cases can arise in families with no history of the disorder. Although rare, hemophilia can produce dangerous episodes of bleeding. In mild forms, it may not become apparent until later in life.
Causes of Hemophilia
The cause is due to the deficiency of a coagulation factor (X-linked recessive gene). It is passed by an affected male to all of his daughters, but to none of his sons, and females become carriers of the condition. They usually are without symptoms. The sons of female carriers may be affected. The daughters of female carriers may themselves become carriers. Mutations occur producing new cases in families with no history of this disorder.
Signs and Symptoms of Hemophilia
People who are symptomatic from Hemophilia usually have many large bruises. Bleeding into the joints produces pain and swelling of the joint. There may be excessive bleeding from cuts. Nosebleeds may be frequent and severe. There may be blood in the urine and the stool. Vomiting blood may occur as well as black, tarry stools. This can produce anemia, with shortness of breath, pallor, weakness and exercise intolerance. Bleeding in the head, possibly after a head injury, can lead to decreased level of consciousness, headache, nausea and vomiting, weakness, numbness and speech problems.
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Medical Content Last Updated on 07/12/2008
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