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Alpha 1-antitrypsin deficiency
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FORMAL NAME OF DISEASE
Nature of the Genetic Difficulty
-located in X chromosome
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.
Basis Facts of Disease
Hemophelia is a genetic disorder affecting the bloods ability to clot. Blood clotting is a necessary function of the body and occurs when blood turns from a liquid to a solid to stop bleeding. There are three specific types of haemophilia and each will result in prolonged bleeding. Small exterior cuts and abrasions are not a major issue for hemophiliacs but internal bleeding or bleeding into joints can cause serious health issues – even death. There is no cure for hemophilia, but treatments and self-care regimes are available which result in most patients being able to live active productive lives.
Deaths from Hemophilia: 1,681 deaths for coagulation defects
Estimated mortality rate for Hemophilia from prevalence and deaths statistics:
Deaths: 1,681 (USA annual deaths calculated from this data: 1,681 deaths for coagulation defects Incidence: 20,000 (USA prevalence calculated from this data: 20,000 people in the United States 8.4% (ratio of deaths to prevalence).
Complications of Hemophilia may include:
Antibodies against transfused clotting factors (see Clotting symptoms) - about 15% of severe hemophiliacs; 2.5% of others. Arthritis - from bleeding in the joints. Arthropathy - from bleeding in the joints. Hemorrhage Fatal hemorrhage
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