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.
The pathogenesis of [[Hemophilia A]] is characterized by genetic deficiency in [[Factor VIII]].


==Pathophysiology==
==Pathophysiology==

Revision as of 08:27, 27 March 2017

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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. [2]

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

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