胎儿血红蛋白再生治疗β-血红蛋白病  

Fetal hemoglobin regeneration for therapy ofβ-hemoglobinopathies

作　　者：赵飞燕 吴宇轩 ZHAO Feiyan;WU Yuxuan(Shanghai Key Laboratory of Regulatory Biology,Shanghai Frontiers Science Center of Genome Editing and Cell Therapy,School of Life Sciences,East China Normal University,Shanghai 200241,China)

机构地区：[1]华东师范大学生命科学学院,上海市基因编辑和细胞治疗前沿科学研究基地,上海市调控生物学重点实验室,上海200241

出　　处：《自然杂志》2022年第5期389-397,共9页Chinese Journal of Nature

摘　　要：β-血红蛋白病是世界上最常见的遗传疾病,该病最初的治疗策略为病毒载体介导的基因治疗,但由于花费昂贵、疗效有限、存在安全隐患等问题进展缓慢。近些年,基因组编辑技术成为开发β-血红蛋白病新型治愈方案的有力工具。文章回顾了胎儿血红蛋白再生策略治疗β-血红蛋白病的最新进展,其中破坏BCL11A红系增强子的方式因其安全、有效、临床价值高而备受青睐。β-血红蛋白病基因治疗策略的下一步发展值得期待,有望完全治愈β-地中海贫血和镰状细胞贫血症这两种遗传性血液病。β-hemoglobinopathy is the most common genetic disease in the world.The initial treatment strategy is viral vector-mediated gene therapy.Due to the high cost,limited efficacy and potential safety problems,the progress is slow.In recent years,genome editing technology has been a powerful tool for the development of new cures forβ-hemoglobinopathy.This article reviewed the latest developments in fetal hemoglobin regeneration strategies for the treatment ofβ-hemoglobinopathy.The stratergy of disrupting the BCL11A erythroid enhancer is favored due to its safety,effectiveness and higher clinical value.Looking forward to development of gene therapy strategy forβ-hemoglobinopathy,it is expected to completely cure the two inherited blood diseases ofβ-thalassemia and sickle cell anemia.

关 键 词：β-血红蛋白病 基因组编辑 胎儿血红蛋白 

分 类 号：R556.7[医药卫生—血液循环系统疾病]