β-地中海贫血治疗的研究进展

Research progress on treatment of β⁃thalassemia

β-地中海贫血是由于β-珠蛋白基因异常而导致的单基因遗传病,是地中海贫血中最常见的类型。尽管目前治疗地中海贫血的方法有很多,比如输血、铁螯合、脾切除、异体造血干细胞移植(HSCT)等,但在治愈地中海贫血的道路上仍面临巨大的挑战。本文主要根据β-地中海贫血的发病机制系统阐述其目前的临床治疗策略,并着重叙述基因治疗技术如何治愈β-地中海贫血的研究进展。

β⁃thalassemia,the most common form of thalassemia,is a monogenic inherited disease caused by the abnormality ofβ⁃globin gene.Although there are currently many treatments for thalassemia,such as blood transfusion,iron chelation,splenectomy,and allogeneic hematopoietic stem cell transplantation(HSCT),the pathway to cure thalassemia still faces great challenges.In this paper,the current clinical treatment strategies ofβ⁃thalassemia were systematically described based on the pathogenesis of the disease,and the research progress of how to cureβ⁃thalassemia by gene therapy was emphatically described.