Hemophilia A pathophysiology: Difference between revisions
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==Overview== | ==Overview== | ||
The pathogenesis of [[Hemophilia A]] is characterized by genetic deficiency in [[Factor VIII]]. | |||
==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. <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> | *The [[Gene|''F8'' gene]] associated with the development of Hemophilia A is located close to the tip Xq, and affects production of [[Factor VIII|clotting factor VIII]]. Abnormalities in the [[Gene|''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 | *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. <ref>Handbook of Genetic Counseling/Hemophilia and Von Willebrand Disease – Wikibooks, open books for an open world. Available at https://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling/Hemophilia_and_Von_Willebrand_Disease Accessed on July 30,2016 </ref> | *In rare cases, individuals may develop hemophilia later in life. This acquired form of the disease results from development of [[antibodies]] to factor VIII.<ref>Handbook of Genetic Counseling/Hemophilia and Von Willebrand Disease – Wikibooks, open books for an open world. Available at https://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling/Hemophilia_and_Von_Willebrand_Disease Accessed on July 30,2016 </ref><ref name="pmid23696725">{{cite journal| author=Pandey GS, Yanover C, Howard TE, Sauna ZE| title=Polymorphisms in the F8 gene and MHC-II variants as risk factors for the development of inhibitory anti-factor VIII antibodies during the treatment of hemophilia a: a computational assessment. | journal=PLoS Comput Biol | year= 2013 | volume= 9 | issue= 5 | pages= e1003066 | pmid=23696725 | doi=10.1371/journal.pcbi.1003066 | pmc=3656107 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23696725 }} </ref> | ||
==References== | ==References== | ||
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Latest revision as of 18:47, 28 October 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: 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.[2][3]
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/
- ↑ Handbook of Genetic Counseling/Hemophilia and Von Willebrand Disease – Wikibooks, open books for an open world. Available at https://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling/Hemophilia_and_Von_Willebrand_Disease Accessed on July 30,2016
- ↑ Pandey GS, Yanover C, Howard TE, Sauna ZE (2013). "Polymorphisms in the F8 gene and MHC-II variants as risk factors for the development of inhibitory anti-factor VIII antibodies during the treatment of hemophilia a: a computational assessment". PLoS Comput Biol. 9 (5): e1003066. doi:10.1371/journal.pcbi.1003066. PMC 3656107. PMID 23696725.