通过下一代测序在中国南方发现与α-地中海贫血性状相关的新型帧移位突变（HBA2:C.337delC）。

IF 1.2 4区医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Hemoglobin Pub Date : 2024-04-23 DOI:10.1080/03630269.2024.2344786

Lei Pan, Yan Wang, Haiying Lin, Xiufa Zhang, Rui Zhang

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引用次数: 0

摘要

在此，我们报告了通过新一代测序检测到的由 HBA2 基因第 3 外显子（HBA2:c.337delC）单碱基缺失引起的新型换框突变。该患者是一名 26 岁的中国孕妇，来自湖南省。她的平均血球容积（MCV）和平均血红蛋白（MCH）轻度下降。毛细管电泳（CE）显示，血红蛋白 A（97.8%）和血红蛋白 F（0.0%）值均在正常范围内，而血红蛋白 A2（2.2%）值低于正常。α和β-球蛋白基因的序列分析显示，在杂合状态下，密码子112处有一个新的单碱基缺失（HBA2:c.337delC），导致α地中海贫血的轻度表型。

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A Novel Frameshift Mutation(HBA2:C.337delC) Associated With α-Thalassemia Trait Detected by Next-Generation Sequencing in Southern China.

Here, we report a novel frameshift mutation caused by a single base deletion in exon 3 of the HBA2 gene (HBA2:c.337delC) detected by next-generation sequencing. The proband was a 26-year-old Chinese pregnant woman who originates from Hunan Province. Her mean corpuscular volume(MCV) and mean corpuscular hemoglobin (MCH) had a mild decrease. Capillary electrophoresis (CE) showed that both Hb A (97.8%) and Hb F (0.0%) values were within normal range, while the Hb A2 (2.2%) value was below normal. Sequence analysis of the α and β-globin genes revealed a novel single base deletion at codon 112 (HBA2:c.337delC) in the heterozygous state, which resulted in a mild phenotype of α-thalassemia.

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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