A novel mutation p.Met1Val in SERPINC1 gene causes hereditary antithrombin deficiency in a Chinese family with thrombotic disease

Venous thromboembolism (VTE), which includes deep vein thrombosis (DVT) and pulmonary embolism (PE), is the second most common cardiovascular disease after myocardial infarction, affecting approximately 10 million people worldwide each year [1]. Genetic factors can now be found in up to 30  % of VTE patients, including factor V Leiden and the prothrombin G20210A mutations which mainly be found in Europe and the United States. Other inherited thrombotic disorders, such as antithrombin, protein C and protein S deficiency, are relatively rare but result in a higher risk of thrombosis.

Source: Thrombosis Research - November 10, 2023 Category: Hematology Authors: Manlin Zeng, Kaiqi Jia, Meina Liu, Mingshan Wang, Lihong Yang, Haixiao Xie Tags: Letter to the Editors-in-Chief Source Type: research