β-地中海贫血基因治疗研究进展  

Research Progress on Gene Therapy for β-thalassemia——Review

作　　者：洪炜聪 方建培[1] 许吕宏[1] HONG Wei-Cong;FANG Jian-Pei;XU Lyu-Hcmg(Department of Pediatrics,Sun Yat-sen Memorial Hospital,Sun Yat-sen University,Guangzhou 510000,Guangdong Province,China)

机构地区：[1]中山大学孙逸仙纪念医院儿科,广东广州510000

出　　处：《中国实验血液学杂志》2021年第5期1676-1679,共4页Journal of Experimental Hematology

基　　金：国家自然科学基金(81370603);国家卫生和计划生育委员会临床重点学科项目(1311200006107)。

摘　　要：地中海贫血为单基因遗传性溶血性疾病,由于β-珠蛋白链合成部分或完全受抑制而造成一系列病理生理改变。目前,根治该病的方法是重塑造血系统,利用基因改造的自体造血干细胞进行移植,可避免传统异基因造血干细胞移植的人类白细胞抗原配型困难和免疫排斥等问题。β-地中海贫血基因治疗策略主要有基因整合与基因组编辑,前者依赖慢病毒载体的开发,在染色体上添加了有完整功能的HBB基因;后者随着特异性核酸酶的研发而迅速发展,可对HBB基因进行原位修复。本文对此2种基因治疗策略的最新进展作一综述。β-thalassemia is a monogenetic inherited hemolytic anemia,which results in a series of pathophysiological changes due to partial or complete inhibition of the synthesis ofβ-globin chain.The curative therapy for this disease is to reconstitute hematopoiesis,and transplantation with genetically modified autologous hematopoietic stem cells can avoid the major difficulties of traditional allogeneic hematopoietic stem cell transplantation,such as HLA matching and immune rej ection.β-thalassemia gene therapy strategies mainly include gene integration and genome editing.The former relies on the development of lentiviral vectors and adds a fully functional HBB gene to the chromosome;the latter rapidly develops with the research of specific nuclease which can repair the HBB gene in situ.In this review,the latest progress of the two strategies in gene therapy ofβ-thalassemia is summarized.

关 键 词：地中海贫血 基因整合 基因组编辑 

分 类 号：R556.61[医药卫生—血液循环系统疾病]