中国重型β地中海贫血的流行病学与治疗
Epidemiology and treatment of beta thalassemia major in China.
作者信息
Xu Xiaoxiao, Wu Xuedong
机构信息
Departments of pediatrics Nanfang Hospital Southern Medical University Guangzhou Guangdong China.
出版信息
Pediatr Investig. 2019 Oct 28;4(1):43-47. doi: 10.1002/ped4.12154. eCollection 2020 Mar.
Abstract
Thalassemia, classified as the main types α- and β-thalassemia, is a single gene disorder resulting from globin chain synthesis impairment through the mutation or deletion of globin genes. The incidence of thalassemia is high worldwide, with high associated mortality. Therefore, treatment is important to improve patient outcomes. This paper reviews the current status of β-thalassemia major in China, including its epidemiology and treatment.
摘要
地中海贫血分为主要类型的α型和β型，是一种单基因疾病，由珠蛋白基因突变或缺失导致珠蛋白链合成受损引起。地中海贫血在全球发病率很高，相关死亡率也很高。因此，治疗对于改善患者预后很重要。本文综述了中国重型β地中海贫血的现状，包括其流行病学和治疗情况。
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