Prothrombin (Factor II) 20210 Gene Mutation

(See also Overview of Thrombotic Disorders Overview of Thrombotic Disorders In healthy people, homeostatic balance exists between procoagulant (clotting) forces and anticoagulant and fibrinolytic forces. Numerous genetic, acquired, and environmental factors can tip... read more .)

Prothrombin (factor II) is a vitamin K–dependent precursor of thrombin, the terminal enzyme of the coagulation cascade (see figure ). A single nucleotide mutation in one (or, less commonly, both) of the prothrombin genes at position 20210 results in increased plasma prothrombin levels (with potentially increased thrombin generation) and increases the risk of venous thromboembolism Deep Venous Thrombosis (DVT) Deep venous thrombosis (DVT) is clotting of blood in a deep vein of an extremity (usually calf or thigh) or the pelvis. DVT is the primary cause of pulmonary embolism. DVT results from conditions... read more (VTE).

The prevalence of the mutation ranges from < 1% to 4%, depending on the population studied (1 General reference A genetic mutation causes increased plasma levels of prothrombin (factor II), predisposing to venous thrombosis. (See also Overview of Thrombotic Disorders.) Prothrombin (factor II) is a vitamin... read more ). The mutation is very rare in individuals of Asian or African descent (1 General reference A genetic mutation causes increased plasma levels of prothrombin (factor II), predisposing to venous thrombosis. (See also Overview of Thrombotic Disorders.) Prothrombin (factor II) is a vitamin... read more ).

The diagnosis is made by genetic analysis of the prothrombin 20210 gene using blood samples.