Prothrombin G20210A mutation, antithrombin, heparin cofactor II, protein C, and protein S defects.
These defects are not as common as factor V Leiden, but they are more common than many other hereditary procoagulant defects. The incidence of the prothrombin gene (G20210A) mutation is not yet known with certainty, but it may approach or even exceed that of factor V Leiden. These defects also seem less common than hereditary sticky platelet syndrome; however, they are all common enough that they always should be considered in any individual with unexplained thrombosis and should be part of the work-up for patients with thrombotic disorders. Of the defects discussed herein, prothrombin G20210A mutation seems, thus far, to be more common than AT, protein C, protein S, or HC-II defects. Assessment of prothrombin gene mutation should be part of the primary evaluation of patients with unexplained thrombosis.
Bick
Rodger L
RL
Department of Medicine and Pathology, University of Texas Southwestern Medical Center, 10455 North Central Expressway, Suite 109-PMB320, Dallas, TX 75231, USA. rbick@thrombosis.com
D000991:Antithrombins / Q000172:deficiency*; D015844:Heparin Cofactor II / Q000172:deficiency*; D006801:Humans; D017354:Point Mutation; D020151:Protein C Deficiency / Q000235:genetics*; D018455:Protein S Deficiency / Q000235:genetics*; D011516:Prothrombin / Q000235:genetics*; D013927:Thrombosis / Q000235:genetics
D000991:Antithrombins; D015844:Heparin Cofactor II; D011516:Prothrombin