Hemophilia causes
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Hemophilia causes On the Web |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Simrat Sarai, M.D. [2]
Overview
Hemophilia is caused by a mutation in a gene involved in the synthesis of clotting factor proteins.
Causes
- Hemophilia is caused by a mutation or change, in one of the genes, that provides instructions for making the clotting factor proteins needed to form a blood clot. This change or mutation can prevent the clotting protein from working properly or to be missing altogether. These genes are located on the X Chromosome. Males have one X and one Y chromosome (XY) and females have two X chromosomes (XX). Males inherit the X chromosome from their mothers and the Y chromosome from their fathers. Females inherit one X chromosome from each parent. A defect in one of the genes that determines how the body makes blood clotting factor VIII or IX causes hemophilia. These genes are located on the X chromosomes.[1]
Hemophilia genes 
Hemophilia genes
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References
- ↑ Centers for Disease Control and Prevention. Hemophilia Fact Sheet. Accessed on August 31, 2015 http://www.cdc.gov/ncbddd/hemophilia/facts.html