Prothrombin 20210 mutation

Last revised by Henry Knipe on 7 Dec 2023

Prothrombin 20210 mutation is a prothrombotic hematological condition which predisposes individuals to thromboembolic events such as


It is considered the second most commonly inherited thrombophilia after factor V Leiden (FVL) 1. Overall prevalence can vary but can range between 1-6% of those with heterogenous PTM, with an overall prevalence estimated at 2% of the general population according to limited published data. The annual incidence of the first episode of VTE was noted 0.35% in carriers 2.

History and etymology

Poort and colleagues first described it in 1996 1.

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