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Prothrombin G20210A

Authoring team

Prothrombin G20210A is due to a single base change in the 3' untranslated region of the prothrombin gene and is associated with an elevated plasma level of prothrombin.

  • there is a 3x increased risk of thrombosis associated with this condition
  • the prevalence in patients with venous thromboembolism is about 6%
  • prevalence in the normal population is about 2%

There is increasing evidence that individuals with two or more laboratory characterisable thrombophilic abnormalities (or who are homozygous for either factor V Leiden or prothrombin G20210A) are at a greater risk of thrombosis than those in whom there is a single gene abnormality (1)

Reference

  1. Alfirević Z, Alfirević I. Hypercoagulable state, pathophysiology, classification and epidemiology. Clinical Chemistry and Laboratory Medicine. Dec 2010;48(Suppl 1):S15-26. DOI: 10.1515/CCLM.2010.371. Epub 2010 Nov 16. PMID: 21077792

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