What is the role of prothrombin G20210A in the pathophysiology of hereditary and acquired hypercoagulability?

Updated: Jan 05, 2018
  • Author: Paul Schick, MD; Chief Editor: Srikanth Nagalla, MBBS, MS, FACP  more...
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Answer

Prothrombin G20210A

Prothrombin G20210A is a polymorphism in a noncoding region (nucleotide 20210A) of the factor II (prothrombin) gene that consists of replacement of guanine with adenine, and results in elevated prothrombin levels. This mutation occurs primarily in Caucasians. Heterozygotes are at minimal risk for thrombosis, but homozygotes are 2- to 3-fold increased risk for developing thrombosis.


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