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

作　　者：韩潇 张诚 张曦(综述) 文钦(审校) HAN Xiao;ZHANG Cheng;ZHANG Xi;WEN Qin(Medical Center of Hematology,Xinqiao Hospital of Army Military Medical University/State Key Laboratory of Trauma,Burns and Combined Injury/PLA Blood Disease Center/Chongqing Key Discipline of Medicine,Chongqing 400037,China)

机构地区：[1]陆军军医大学新桥医院血液病医学中心/创伤、烧伤与复合伤国家重点实验室/全军血液病中心/重庆市医学重点学科,重庆400037

出　　处：《重庆医学》2022年第23期4100-4106,共7页Chongqing medicine

基　　金：重庆市技术创新与发展专项面上项目(cstc2019jscx-msxmX0147)。

摘　　要：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.

关 键 词：先天性铁粒幼细胞贫血 基因 遗传学 

分 类 号：R556.9[医药卫生—血液循环系统疾病]