prothrombin G20210A

Last reviewed 01/2018

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) British Heart Foundation (Factfile 2/2002). Thrombophilia