Table 4.
Thrombophilia | Mechanism causing hypercoagulability |
---|---|
Methylene tetrahydrofolate reductase mutation | Causes an increase in homocysteine, an amino acid intermediate in the metabolism of methionine which is linked to thrombosis |
Protein C and S deficiency | Protein S is a cofactor for protein C, which is a proteolysis enzyme of factor Va and VIIIa |
Antithrombin III deficiency | Antithrombin III is a protease for most clotting factors |
Factor V Leiden mutation | The mutation results in an increase in the function of factor V, causing protein C to function improperly |
G20210A mutation | Mutation in the prothrombin gene resulting in elevated plasma prothrombin |
Note: Both the mutation or deficiency and the mechanism causing hypercoagulability are listed here for the most commonly tested hereditable thrombophilias.