Hemophilia A pathophysiology: Difference between revisions

Jump to navigation Jump to search
(Created page with "__NOTOC__ {{Hemophilia A}} Please help WikiDoc by adding content here. It's easy! Click here to learn about editing. ==References== {{Reflis...")
 
No edit summary
 
(15 intermediate revisions by 4 users not shown)
Line 1: Line 1:
__NOTOC__
__NOTOC__
{{Hemophilia A}}
<div style="-webkit-user-select: none;">
{| class="infobox" style="position: fixed; top: 65%; right: 10px; margin: 0 0 0 0; border: 0; float: right;"
|-
| {{#ev:youtube|https://https://www.youtube.com/watch?v=nkC1vZaUpxs|350}}
|-
|}
{{CMG}}{{AE}}{{FNY}}


Please help WikiDoc by adding content here. It's easy!  Click  [[Help:How_to_Edit_a_Page|here]] to learn about editing.
==Overview==
The pathogenesis of [[Hemophilia A]] is characterized by genetic deficiency in [[Factor VIII]].
 
==Pathophysiology==
*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).
*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><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==
 
{{reflist|2}}
{{Reflist|2}}


{{WH}}
{{WH}}
{{WS}}
{{WS}}
[[Category:Needs content]]
[[Category:Disease]]
[[Category:Hematology]]
[[Category:Pediatrics]]
[[Category:Neonatology]]

Latest revision as of 18:47, 28 October 2018

https://https://www.youtube.com/watch?v=nkC1vZaUpxs%7C350}}

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

  1. 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/
  2. 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
  3. 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.

Template:WH Template:WS