：β地中海贫血是β-珠蛋白基因缺陷导致血红蛋白中β-珠蛋白链合成减少或缺乏，红细胞寿命缩短的一种遗 传性溶血性贫血。临床表现轻重不一，重型患者可因贫血、脓毒症和全身衰竭死亡。输血、袪铁、脾切除术等为既往常用的 治疗方案。因铁过载、免疫功能低下和治疗效果欠佳等原因，新的治疗方案应运而生，包括药物诱导γ-珠蛋白基因活化、 异基因造血干细胞移植以及基因治疗。文章综述重型β地中海贫血治疗的研究进展。

Beta-thalassemia is a group of hereditary hemolytic anemia caused by beta-globin gene mutation, resulted in reduced or lacked synthesis of beta-globin chains. Clinical manifestations ranged from severe anemia to normal. Severe patients will die of anemia, septicemia or generalized organ failure if timely treatment is not available. Previous conservative treatments included life-long red blood cell transfusion, iron chelation, and splenectomy, etc. Due to iron overload, immunocompromise and low efficacy of conservative treatments, novel therapeutic approaches including pharmaceutical induction of gamma-globin, allogeneic hematopoietic stem cell transplantation and gene therapy have been developed. This review discussed current and future alternative therapies for beta-thalassemia major.