Antithrombin Rybnik: A new point mutation (nt 683 G>T) associated with type i antithrombin deficiency in a patient with venous thromboembolism and recurrent superficial venous thrombosis

摘要

Antithrombin (AT) synthesized in the liver is the main endogenous anticoagulant that primarily inactivates thrombin and activated factor X [1]. The gene encoding AT (SERPINC1) consists of seven exons and six introns and is located on the chromosome lq 23-25 [2]. Until now more than 200 AT gene mutations underlying AT deficiency have been reported (Human Gene Mutation Database, 2008.3, http://www.hgmd.cf.ac.uk/ac/gene. php?gene = SERPINCl). Inherited AT deficiency is an autosomal dominant disorder with the prevalence in the general population estimated between 1: 500 and 1:5000 [1]. Among deficiencies of the natural coagulation inhibitors, AT deficiency leads to the highest risk of venous thromboembolism (VTE), which increases with age [3], especially if transient risk factors, such as surgery, pregnancy or immobilization occur.