Hemophilia A pathophysiology: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Hemophilia A}} | {{Hemophilia A}} | ||
{{CMG}} | {{CMG}} {{FNY}} | ||
==Overview== | ==Overview== | ||
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==Pathophysiology== | ==Pathophysiology== | ||
*The ''F8'' gene associated with the development of Hemophilia A is located close to the tip Xq, and affects production of clotting factor VIII. Abnormalities in the ''F8'' gene cause a relative deficiency in factor VIII, resulting in improper hemostasis and abnormal or excessive bleeding. | *The ''F8'' gene associated with the development of Hemophilia A is located close to the tip Xq, and affects production of clotting factor VIII. Abnormalities in the ''F8'' gene cause a relative deficiency in factor VIII, resulting in improper hemostasis and abnormal or excessive bleeding. <ref> Konkle BA, Josephson NC, Nakaya Fletcher S. Hemophilia A. 2000 Sep 21 [Updated 2014 Jun 5]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www-ncbi-nlm-nih-gov.laneproxy.stanford.edu/books/NBK1404/ </ref> | ||
*This trait is inherited in an X-linked recessive manner, affecting males and homozygous females (very rare). | *This trait is inherited in an X-linked recessive manner, affecting males and homozygous females (very rare). | ||
*One-third of new cases of Hemophilia A are due to spontaneous mutations in the X-chromosome, not inherited from either parent. | *One-third of new cases of Hemophilia A are due to spontaneous mutations in the X-chromosome, not inherited from either parent. | ||
Revision as of 23:50, 20 September 2016
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Fahd Yunus, M.D. [2]
Overview
- The pathogenesis of hemophilia A is characterized by genetic deficiency in Factor VIII.
Pathophysiology
- The F8 gene associated with the development of Hemophilia A is located close to the tip Xq, and affects production of clotting factor VIII. Abnormalities in the F8 gene cause a relative deficiency in factor VIII, resulting in improper hemostasis and abnormal or excessive bleeding. [1]
- This trait is inherited in an X-linked recessive manner, affecting males and homozygous females (very rare).
- One-third of new cases of Hemophilia A are due to spontaneous mutations in the X-chromosome, not inherited from either parent.
- In rare cases, individuals may develop hemophilia later in life. This acquired form of the disease results from development of antibodies to factor VIII.
References
- ↑ Konkle BA, Josephson NC, Nakaya Fletcher S. Hemophilia A. 2000 Sep 21 [Updated 2014 Jun 5]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www-ncbi-nlm-nih-gov.laneproxy.stanford.edu/books/NBK1404/