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Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
13:08

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay

Published on: September 9, 2012

Venous thrombosis with both heterozygous factor V Leiden (R507Q) and factor II (G20210A) mutations

Feriyl Bhaijee1, Brenda Jordan, Dominique J Pepper

  • 1Dept. of Pathology, University of Mississippi Medical Center, Jackson, MS 39216, USA.

Clinical Laboratory Science : Journal of the American Society for Medical Technology
|January 22, 2013
PubMed

Both hereditary and acquired factors increase the risk of venous thromboembolism, thus the clinical management of affected patients involves evaluation of genetic factors that predispose to hypercoagulability. Factor V Leiden (R507Q) and factor II (prothrombin) mutation (G20210A) are the two most common inherited hypercoagulability disorders among populations of European origin. Both factor V Leiden and factor II mutation (G20210A) represent gain-of-function mutations: factor V Leiden causes resistance to activated protein C, and factor II mutation (G20210A) results in higher levels of plasma prothrombin. Herein, we present an uncommon case of combined factor V Leiden mutation (R507Q) and factor II mutation (G20210A), and discuss the prevalence and features of each entity, as well as their role in the clinical management of affected patients.

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