广西是我国地中海贫血发生率最高的省区，深静脉血栓作为地贫患者最常见的并发症之一，严重影响了患者生存质量。迄今地贫患者血栓形成的遗传背景数据仍很少，作用机制尚未明确。本课题组预实验发现蛋白C、蛋白S基因突变存在于一位反复血栓形成的女性α地中海地贫患者中，这些基因的突变可能参与地贫患者复发性血栓形成。因此，地贫患者血栓形成不仅仅与血液高凝状态有关，遗传性血栓基因突变可能也参与其中。蛋白C、蛋白S是抗凝系统的重要组成部分，分别由PROC、PROS1基因编码。研究表明，蛋白C、蛋白S是亚洲地区常见的血栓危险基因，但二者在地贫患者血栓形成中的作用尚未见报道。本课题组首次以地贫患者为研究对象，通过收集血液标本，采用ELISA法检测蛋白C、蛋白S、相关凝血指标的水平及PCR法测定PROC、PROS1基因序列，探讨二者在地中海贫血患者血栓形成中的作用，为地贫患者反复血栓形成的防治提供实验依据和新思路。

Guangxi has the highest incidence of thalassemia in China. Deep venous thrombosis has a severe impact on quality life, which is one of the most common complications. So far, the genetic background data about the thrombosis with thalassemia is rare, and its mechanism of action is not clear. Our preliminary experiment found that protein C (PC) and protein S (PS) gene mutation exist in a female patient with α thalassemia who suffers recurrent thrombosis. It reveals that the high risk of venous thrombosis is not only related to the hypercogulation, genetic factors may be involved in the pathogenesis. PC and PS are the important parts in anticoagulant system, which are encoded by PROC and PROS1. Research has shown that PC and PS are the most commonly detected thrombophilias in Asia. However, the effect of PROC and PROS1 gene variants associated with thrombosis in thalassemia has not been reported. Our study choose the patients with thalassemia who have a history of previous VTE as subjects to collect blood for testing the activity of PC and PS, the PROC and PROS1 gene variant. We focus on confirming the association between the gene variants and thrombosis in thalassemia, and provide some significant suggests in prevention and treatment.