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 for β-hemoglobinopathy. This article reviewed the latest
developments in fetal hemoglobin regeneration strategies for the treatment of β-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 for β-hemoglobinopathy, it is expected to completely cure the two inherited blood diseases of β-thalassemia and
sickle cell anemia.