Hemophilia causes: Difference between revisions
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Hemophilia is caused by a [[mutation]] in a [[gene]] involved in the synthesis of clotting factor proteins. | Hemophilia is caused by a [[mutation]] in a [[gene]] involved in the synthesis of clotting factor proteins. | ||
==Causes== | ==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.<ref>Centers for Disease Control and Prevention. Hemophilia Fact Sheet. Accessed on August 31, 2015 http://www.cdc.gov/ncbddd/hemophilia/facts.html</ref>[[ | *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.<ref>Centers for Disease Control and Prevention. Hemophilia Fact Sheet. Accessed on August 31, 2015 http://www.cdc.gov/ncbddd/hemophilia/facts.html</ref> | ||
*Another form of the disorder, known as [[acquired]] hemophilia, is not caused by inherited gene mutations. This rare condition is characterized by abnormal bleeding into the skin, muscles, or other soft tissues, usually beginning in adulthood. Acquired hemophilia results when the body makes specialized proteins called autoantibodies that attack and disable coagulation factor VIII. The production of autoantibodies is sometimes associated with pregnancy, immune system disorders, cancer, or allergic reactions to certain drugs. In about half of cases, the cause of acquired hemophilia is unknown.<ref>{{Cite web | title = Hemophilia Pathophysiology| url =http://ghr.nlm.nih.gov/condition/hemophilia }}</ref> | |||
==References== | ==References== | ||
Revision as of 21:09, 31 August 2015
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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]
- Another form of the disorder, known as acquired hemophilia, is not caused by inherited gene mutations. This rare condition is characterized by abnormal bleeding into the skin, muscles, or other soft tissues, usually beginning in adulthood. Acquired hemophilia results when the body makes specialized proteins called autoantibodies that attack and disable coagulation factor VIII. The production of autoantibodies is sometimes associated with pregnancy, immune system disorders, cancer, or allergic reactions to certain drugs. In about half of cases, the cause of acquired hemophilia is unknown.[2]
References
- ↑ Centers for Disease Control and Prevention. Hemophilia Fact Sheet. Accessed on August 31, 2015 http://www.cdc.gov/ncbddd/hemophilia/facts.html
- ↑ "Hemophilia Pathophysiology".