血红蛋白疾病基因治疗研究进展

An overview on the study of gene therapy of hemoglobin disorders

血红蛋白疾病是由于血红蛋白分子突变造成其结构或合成异常引起的一类疾病,分为血红蛋白病和地中海贫血两大类。前者表现为血红蛋白分子的珠蛋白肽链结构异常,如镰刀状贫血;后者表现为珠蛋白肽链合成速率的降低,如β-地中海贫血。本文主要以β-地中海贫血和镰刀状贫血为例,从DNA水平、RNA水平和基因调控及干细胞移植等方面介绍血红蛋白疾病基因治疗的研究进展,并结合生命科学的最新发现,对该领域将来可能出现的新的治疗方法提出展望。

Hemoglobin disorders are the diseases caused by mutations leading to structural or synthetic abnormalities of hemoglobin. Conventionally, it is divided into two groups： hemoglobinopathy and thalassemia. The former is categorized by globin structural abnormality, like sickle cell disease; while the latter is termed by decrease or absence in globin chain synthesis, such as β-thalassemia. Taking the β-thalassemia and sickle cell disease as examples, the progresses on the study of gene therapy of hemoglobin disorders is reviewed in this article, including in-situ aberrant correction, normal RNA splicing restoring, gene regulation and hematopoietic stem cell transplantation. Based on recent achievements in life sciences, some personal views of future directions are proposed herein also.