Prothrombin mutation G20210A

Associated with venothromboembolism.

Often co inherited with Factor V Leiden.

Mutation at the 3’ untranslated region of the prothrombin gene with a substitution of adenine for guanine at position 20210.

2% of the white population worldwide and up to 3% of Caucasian Americans.

Allele present in 1.1% of non-Hispanic whites and Mexicans Americans and in 0.3% of African Americans.

Rare among individuals of African and Asian descent.

Polymorphism F2 rs1799963 occurs in a regulatory region of the prothrombin gene and results in higher levels of prothrombin in plasma.

Factor II mutation is the second most common inherited risk factor for venous thromboembolism.

A risk factor for women with hypertension.

Increases the risk of a first venous thrombosis by 2-3%, but only marginally increases the risk for recurrent venous thrombosis.

Family members are at increased risk.

Prothrombin G20220A mutation has a low clinical penetrance of venous thrombosis and have only a 5-10% risk that they will ever have a clot in their lifetime.

A significant interaction with hormonal replacement therapy in postmenopausal causes and increase in risk for myocardial infarction.

Associated with an elevation of prothrombin level in plasma.

Associated with an approximate 30% increase in prothrombin levels in heterozygotes and by 70% in homozygotes.

Homozygosity for this process is rare and its association with recurrent venous thrombosis in probands is therefore not known.

Moderate evidence exists that heterozygosity for this mutation in probands is not predictive or recurrent venous thromboembolism.

Unprovoked thrombotic events with factor V Leiden or prothrombin G20210A mutation are not significantly associated with increased risk of recurrent VTE among heterozygotes, and such events do not merit long-term anticoagulation after a first event:risks of recurrent events are 2.12 for factor V Leiden and 1.45 for prothrombin G20210 mutation.

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