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The definition and epidemiology of non-transfusion-dependent thalassemia.
Blood Reviews ( IF 7.4 ) Pub Date : 2012-04-01 , DOI: 10.1016/s0268-960x(12)70003-6
David J Weatherall 1
Affiliation  

Inherited hemoglobin-related disorders, which include the structural variants (hemoglobin S, C, and E) and the alpha (α)- and beta (β)-thalassemias, affect more than 300,000 children annually, particularly in malaria-endemic regions stretching from sub-Saharan Africa and the Mediterranean to Southeast Asia. Screening for carriers of these traits is important to provide prenatal genetic counseling and to accurately estimate the true prevalence and public health burden of these disorders. The clinical course of thalassemias, which affect nearly 70,000 children annually, is highly variable depending on the mixture of inherited alleles. The primary forms of non-transfusion-dependent thalassemia include β-thalassemia intermedia, hemoglobin E β-thalassemia, and hemoglobin H disease. Early clinical recognition of these disorders is essential to prevent affected children from being mistakenly placed on life-long transfusion therapy.

中文翻译:

非输血依赖性地中海贫血的定义和流行病学。

遗传性血红蛋白相关疾病,包括结构变异(血红蛋白 S、C 和 E)以及 α(α)和β(β)地中海贫血,每年影响超过 300,000 名儿童,特别是在疟疾流行地区撒哈拉以南非洲和地中海到东南亚。筛查这些特征的携带者对于提供产前遗传咨询和准确估计这些疾病的真实患病率和公共卫生负担非常重要。每年影响近 70,000 名儿童的地中海贫血的临床病程因遗传等位基因的混合而变化很大。非输血依赖性地中海贫血的主要形式包括中间型 β-地中海贫血、血红蛋白 E β-地中海贫血和血红蛋白 H 病。
更新日期:2019-11-01
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