Seventeen novel SERPINC1 variants causing hereditary antithrombin deficiency in a Czech population

Antithrombin (AT) as a serpin is a plasma inhibitor especially of thrombin and factor Xa [1]. AT deficiency (ATD) as an autosomal dominant disease is an important cause of inherited thrombophilia [2]. Its prevalence in the general population is estimated at 0.02% –0.2%; in individuals with venous thromboembolism (VTE), 1%–7%. Thus, the relative risk of a first VTE episode is increased 16-fold compared with the controls. It is the most substantial increase of VTE risk in comparison with other inherited thrombophilias, such as protein C and S deficiencies, factor 5 c.1601G > A and factor 2 c.*97G > A mutations (referred to as factor V Leiden, prothrombin G20210A).

Source: Thrombosis Research - March 1, 2020 Category: Hematology Authors: Dana Provazn íková, Miloslava Matýšková, Irena Čápová, Dagmar Grančarová, Eva Drbohlavová, Marie Šlechtová, Ingrid Hrachovinová Tags: Letter to the Editors-in-Chief Source Type: research