Causes of Hemophilia
Hemophilia Causes: Book Excerpts
Related information on causes of Hemophilia:
As with all medical conditions,
there may be many causal factors.
Further relevant information on causes of Hemophilia may be found in:
Causes of Hemophilia: Online Medical Books
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Hemophilia:
Causes and incidence
(Professional Guide to Diseases (Eighth Edition))
Both hemophilia A and B are inherited as X-linked recessive traits. This means that female carriers have a 50% chance of transmitting the gene to each daughter, who would then be a carrier, and a 50% chance of transmitting the gene to each son, who would be born with hemophilia. Hemophilia A (classic hemophilia), which affects more than 80% of patients with hemophilia, results from a deficiency of factor VIII-C; hemophilia B (Christmas disease), which affects approximately 15% of patients with hemophilia, results from a deficiency of factor IX-C.
The factor VIII gene is located within the Xq28 region, and the factor IX gene is located within Xq27. Females with one defective factor VIII gene are carriers of hemophilia. A large number of disease-causing mutations have been identified in both genes. A specific inversion mutation in the noncoding region of the factor VIII gene is present in approximately 45% of families with severe hemophilia A. Hemophilia A is the most common X-linked genetic disease, occurring in approximately 1 in 10,000 live male births. It is five times more common than hemophilia B.
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Source: Professional Guide to Diseases (Eighth Edition), 2005
Hemophilia:
Causes
(Handbook of Diseases)
Hemophilia is caused by a deficiency of clotting factors that are genetically transmitted. (See X factor.)
Incidence
Hemophilia is the most common X-linked genetic disease, occurring in about 1.25 in 10,000 live male births. Hemophilia A is five times more common than hemophilia B. Hemophilia causes abnormal bleeding because of a specific clotting factor malfunction. After a person with hemophilia forms a platelet plug at a bleeding site, clotting factor deficiency impairs the capacity to form a stable fibrin clot.
» READ BOOK EXCERPT ONLINE »
Source: Handbook of Diseases, 2003
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