摘要
地中海贫血是一组单基因遗传性慢性溶血性疾病,由于珠蛋白基因突变或缺失造成血红蛋白组成成份——珠蛋白肽链合成受抑制,从而导致肽链失平衡。其中,重型β地中海贫血严重危害患者健康,已成为社会性的公共卫生问题。规范我国重型β地中海贫血的诊断和治疗有重要的临床意义。由中华医学会儿科学分会血液学组、《中华儿科杂志》编辑委员会2018年发表于《中华儿科杂志》的《重型β地中海贫血的诊断和治疗指南(2017年版)》(简称"《2017指南》"),是对该杂志2010年《重型β地中海贫血的诊断和治疗指南》的更新,现予以解读,为临床医师更新该疾病的诊断治疗知识提供帮助。
Thalassemia is a chronic hemolytic inherited disease through single-gene mutation.Thalassemia is caused by a decrease in the production of globin chains.Beta-thalassemia major is detrimental to health in patients and is considered as a major public health issue.It is of significance to standardize the diagnosis and treatment of β- thalassemia major in our country.In this article,aiming to provide information and references to help clinical doctors,we try to interpret the guidelines for diagnosis and treatment of β-thalassemia major(2017).
作者
许吕宏
方建培
XU Lyu-hong;FANG Jian-pei(Department of Pediatrics ,Sun Yat-sen Memorial Hospital,Sun Yat-sen University,Guangzhou 510120,China)
出处
《中国实用儿科杂志》
CSCD
北大核心
2018年第12期940-943,共4页
Chinese Journal of Practical Pediatrics
关键词
地中海贫血
诊断
治疗
指南
解读
thalassemia
diagnosis
treatment
guidelines
interpretation
