Antithrombin and its inherited deficiency states.
Antithrombin is the primary inhibitor of thrombin that also inhibits many of the other activated serine proteinases involved in blood coagulation. A hypercoagulable state occurs when a deficiency of antithrombin exists in plasma; the deficiency may be either inherited or acquired. This failure to regulate adequately the activity of coagulation proteinases can, with additional provocation, result in clot formation and in the clinical presentation of thromboembolic disease. The structure and function of antithrombin, nature and heterogeneity of the molecular defects in the antithrombin gene associated with inherited antithrombin deficiency, prevalence and the natural history of inherited antithrombin deficiency are all reviewed here.
van Boven
H H
HH
Department of Clinical Epidemiology, University Hospital Leiden, The Netherlands.
Lane
D A
DA
D000990:Antithrombin III / Q000235:genetics / Q000502:physiology; D020152:Antithrombin III Deficiency; D001777:Blood Coagulation / Q000235:genetics / Q000502:physiology; D005796:Genes / Q000235:genetics / Q000502:physiology; D030342:Genetic Diseases, Inborn / Q000097:blood* / Q000453:epidemiology; D006801:Humans; D017354:Point Mutation / Q000235:genetics / Q000502:physiology
D000990:Antithrombin III