Factor II mutation, prothrombin mutation G20210A

EDTA Blood, 1ml

or buccal swab

Factor II mutation or prothrombin mutation is a genetically caused coagulation defect. A point mutation in the regulatory region of the prothrombin gene (mutation G20210A) leads to increased expression of the gene and thus to an accumulation of the factor in the plasma, which in turn leads to an increased tendency of the blood to clot (thrombophilia).

The relative risk of thrombosis is increased 2-3-fold in heterozygotes. In the rare homozygous form, the risk of thrombosis probably increases 15-20-fold.

Additional exogenous (e.g. oral contraceptives, pregnancy, immobilisation) and endogenous (e.g. protein C or protein S deficiency, antithrombin III deficiency) procoagulant factors further increase the risk. Family clarification is generally indicated for those affected.

A high proportion (15-40%) of thrombosis patients who are heterozygous carriers of the factor II mutation prothrombin G20210A are also heterozygous for the factor V mutation type Leiden. The combination of both mutations thus results in a further sharp increase in the risk of thrombosis.


Note: For further clarification of thrombophilia, profile 142 APC resistance and profile 1960 factor V mutation type Leiden are recommended.