What is the role of combined factor V (FV) and factor VIII (FVIII) in the etiology of hemophilia A?

Updated: Apr 08, 2020
  • Author: Douglass A Drelich, MD; Chief Editor: Srikanth Nagalla, MBBS, MS, FACP  more...
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Answer

Combined FV and FVIII deficiency is an autosomal recessive disorder, with clinical manifestations in affected females and males. The disorder is caused by mutations in one of two genes, lectin mannose binding protein 1 (LMAN1) or multiple coagulation factor deficiency 2 (MCFD2), which encode proteins involved in the intracellular transport of FV and FVIII; the coagulation factors themselves are normal. [19]


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