β-地中海贫血的临床实践指南

Clinical practice guidelines for β-thalassemia

β-地中海贫血(比地贫)为常染色体隐性遗传病,也是分子基础被最早阐明的单基因遗传病之一。该病主要分布于包括我国南方地区在内的热带和亚热带地区。重型β-地贫患儿出生时无明显症状,但发病后常因严重贫血且缺乏有效的治疗于幼儿期死亡。本病可通过产前诊断阻止受累患儿的出生。严重贫血的患者可借助终生规范输血和除铁治疗长期生存,造血干细胞移植可以治愈该病,基因治疗也展现出良好的应用前景。本文基于中国人群的表型和遗传突变数据,聚焦于对β-地贫的临床诊断和遗传咨询进行阐述,并概述了该病临床治疗和人群预防的要点,旨在为临床医师及实验室人员提供指导实践的规范性文本,提高β-地贫的临床诊治水平。

β-thalassemia is an autosomal recessive genetic disease as well as one of the single gene disorders whose molecular basis was first clarified.The disease is mainly distributed in tropical and subtropical areas including southern China.Children with β-thalassemia major have no obvious symptoms at birth,but will usually die in early childhood due to severe anemia and lack of effective treatment.This disease can be prevented by prenatal diagnosis.Patients with severe anemia can survive for a long time with life-long standardized blood transfusion and iron removal therapy.Hematopoietic stem cell transplantation may cure the disease,and gene therapy also showed a promising prospect.Based on the phenotypic and genetic data of Chinese population,this article focuses on the clinical diagnosis and genetic consultation of β-thalassemia.and summarizes the key points of clinical treatment and population prevention of β-thalassemia in order to provide clinicians and laboratory personnel with a practical guidance for the clinical management of β-thalassemia.