罕见的异常血红蛋白变异Hb Mizuho: [HBB: C . 206t > C β 68(E12) Leu-Pro]:中国人群的首次报道。

IF 1.2 4区医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Hemoglobin Pub Date : 2023-05-01 DOI:10.1080/03630269.2023.2231851

Ya-Ping Chen, Peng Wu, Heng Wang, Jiang-Fen Wu, Dan Xie, Lei Wang, Bangquan An, Shengwen Huang

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引用次数: 0

摘要

1例6个月大的女婴表现为不明原因的溶血性贫血，毛细管电泳和基因检测均未发现中国人群中常见的α-和β-地中海贫血突变异常。新一代测序(NGS)鉴定了一种罕见的Hb Mizuho: [HBB: C . 206t > C β 68(E12) Leu- Pro]变异，并通过Sanger测序进行了验证。Hb Mizuho: [HBB: C . 206t > C β 68(E12) Leu- Pro]不容易检测，因为它非常不稳定，正确的诊断通常是通过DNA测序做出的。这是该变异在中国人群中的首次报道。

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A Rare Case of Abnormal Hemoglobin Variant Hb Mizuho: [HBB: c.206T > C β 68(E12) Leu-Pro]: A First Report in the Chinese Population.

A 6-month-old female infant presented with unexplained hemolytic anemia, showing no abnormalities by capillary electrophoresis and genetic testing for α- and β-thalassemia mutations that are commonly seen in the Chinese population. A rare Hb Mizuho: [HBB: c.206T > C β 68(E12) Leu- Pro] variant was identified by next-generation sequencing (NGS) and verified by Sanger sequencing. Hb Mizuho: [HBB: c.206T > C β 68(E12) Leu- Pro] is not easily detectable because it is extremely unstable, and the correct diagnosis is usually made via DNA sequencing. This is the first report of this variant in the Chinese population.

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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