铁代谢对于β地中海贫血表型的修饰作用的研究进展  

Research progress of iron metabolism in phenotype modification ofβ-thalassemia

作　　者：陈狄禹 孙筱放[1] Chen Diyu;Sun Xiaofang(Department of Laboratory,Institute of Obstetrics and Gynecology,the Third Affiliated Hospital of Guangzhou Medical University,Guangdong Provincial Key Laboratory for Major Obstetric Diseases,Guangdong Provincial Key Laboratory for Reproduction and Genetics in General Universities,Guangzhou,Guangdong 510150,China)

机构地区：[1]广州医科大学附属第三医院妇产科研究所实验部,广东省产科重大疾病重点实验室,广东省普通高校生殖与遗传重点实验室,510150

出　　处：《中华医学遗传学杂志》2021年第1期27-31,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(31872800)。

摘　　要：β地中海贫血(简称地贫)是由于β珠蛋白基因缺陷导致β珠蛋白肽链合成减少的遗传性溶血性疾病。其病理机制为α/β珠蛋白肽链比例严重失衡,多余的α珠蛋白链沉积形成包涵体,引发红细胞溶血、无效造血以及继发性多组织器官铁超载等。机体铁负荷过重可能导致生长发育停滞、肝硬化、心功能不全等并发症,加重其表型。近年来,随着机体铁代谢相关基因相继被发现,铁代谢在地贫的发生发展过程中的机理逐渐被阐明。研究人员通过改变铁调素、转铁蛋白受体等铁代谢关键基因的表达,揭示了限制红细胞铁应用可改善β地贫无效造血和铁过载的症状,为治疗地贫提供了一个新的途径。本文围绕铁代谢相关基因以及通路在β地贫中的研究进展进行综述。β-thalassemia is a type of inherited hemolytic anemia caused by decreased globin production due to defect of the HBB gene.The pathogenesis of the disease is imbalance ofα/βglobin chains.The excess ofα-globin chains will form hemichromes which can damage red blood cell membranes and lead to hemolysis,ineffective erythropoiesis,and secondary iron overload.Iron overload in turn can cause complications such as growth retardation,liver cirrhosis,cardiac insufficiency,and aggravate the disease phenotype.In recent decades,genes participating in iron metabolism have been discovered,and the mechanism of iron metabolism in the development of thalassemia has gradually been elucidated.Subsequently,by manipulating the expression of key genes in iron metabolism such as hepcidin and transferrin receptor,researchers have revealed that iron restriction can improve ineffective hematopoiesis and iron overload,which may provide a potential approach for the treatment of thalassemia.This article reviews the progress of research on iron metabolism-related genes and related pathways inβ-thalassemia.

关 键 词：Β地中海贫血 无效造血 铁代谢 铁超载 

分 类 号：R556.61[医药卫生—血液循环系统疾病]