SUPT5H缺陷引起的β-地中海贫血：另一例报告。

IF 1.2 4区医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Hemoglobin Pub Date : 2023-11-01 Epub Date: 2023-11-03 DOI:10.1080/03630269.2023.2265294

Zhi-Qing Xiao, Fan Jiang, Dong-Zhi Li

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引用次数: 0

摘要

我们在一名具有β地中海贫血特征的中国女性身上发现了SUPT5H基因的一个新突变。c.193C的替代 > T（p.Arg65*）导致残基65上的过早终止密码子，并可能与单倍充足有关。该变体遗传自同样具有β地中海贫血无症状表型的母亲。我们的病例进一步支持了SUPT5H作为一种潜在的β-珠蛋白链产生调节基因的作用。

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β-Thalassemia Trait Caused by SUPT5H Defects: Another Case Report.

We identified a novel mutation in the SUPT5H gene in a Chinese female who presented with a β-thalassemia trait. The substitution of c.193C > T (p.Arg65*) leads to a premature stop codon on residue 65 and could be associated with haploinsufficiency. This variant was inherited from the mother who also had the asymptomatic phenotype of β-thalassemia trait. Our case further supports the role of SUPT5H as a potential β-globin chain production-modulating gene.

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来源期刊

Hemoglobin 医学-生化与分子生物学

CiteScore

1.70

自引率

10.00%

发文量

审稿时长

3 months

期刊介绍： Hemoglobin is a journal in the English language for the communication of research and information concerning hemoglobin in humans and other species. Hemoglobin publishes articles, reviews, points of view The journal covers topics such as: structure, function, genetics and evolution of hemoglobins biochemical and biophysical properties of hemoglobin molecules characterization of hemoglobin disorders (variants and thalassemias), consequences and treatment of hemoglobin disorders epidemiology and prevention of hemoglobin disorders (neo-natal and adult screening) modulating factors methodology used for diagnosis of hemoglobin disorders