先天性铁粒幼细胞贫血相关基因及诊治研究进展

Research advances on related genes,diagnosis and treatment of congenital sideroblastic anemia

铁粒幼细胞贫血(SA)是一组遗传性和获得性骨髓疾病,表现为红细胞前体细胞的线粒体中病理性铁积累。先天性铁粒幼细胞贫血(CSA)是由血红素生物合成、铁-硫簇合成和线粒体蛋白质合成过程中相关基因突变引起的罕见疾病。随着基因组学和二代测序的发展,CSA的分子遗传学基础有较多更新。该综述重点分析这些疾病的相关基因、机制及其指导下的临床精准治疗。

Sideroblastic anemia(SA)is a group of inherited and acquired bone marrow diseases,which is manifested by the pathological iron accumulation in the mitochondria of red blood cell precursors.Congenital sideroblastic anemia(CSA)is a rare disease caused by the related genes mutations during the processes of heme biosynthesis,iron-sulfur cluster synthesis and mitochondrial protein synthesis.With the development of genomics and next-generation sequencing,the molecular genetics foundation of CSA have more updates.This review focuses on analyzing the related genes and mechanisms of these diseases and the clinical precision treatment under these guidances.