Abstract:

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）.

Key words: thalassemia, diagnosis, treatment, guidelines, interpretation

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。

关键词: 地中海贫血, 诊断, 治疗, 指南, 解读