Antithrombin gene, mutations

Protein C, protein S, antithrombin III, activated protein C resistance, lipoprotein(a) anticardiolipin antibodies, lupus anticoagulant, prothrombin gene mutation 20210a... 

The inherited (primary) hypercoagulable states include activated protein C resistance due to the factor V Leiden mutation, prothrombin gene mutation, antithrombin deficiency, protein C or protein S deficiency, and dysfibrino-genemia. The most important cause of activated Protein C resistance is the defect in factor V involving the mutation of Arg506 to Gln506 (191). 

Mutations in the antithrombin (AT) gene have been the basis of AT deficiency. In type I AT deficiency the level of circulating protein molecule and activity are reduced to nearly 50% of normal. Molecular defects in the AT gene resulting in gene deletions at specific DNA sequences may be the basis for type I AT deficiency predisposing such patients to thrombosis (82). 

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