血红蛋白 Balkh，α2-球蛋白基因第 132 号密码子[α132(H15) (+T) 或 HBA2:C.396dup (p.Val134fs)] 的新型突变：病例报告及对病理生理学的见解。

IF 1.2 4区医学 Q4 BIOCHEMISTRY & MOLECULAR BIOLOGY

Hemoglobin Pub Date : 2024-07-01 Epub Date: 2024-10-16 DOI:10.1080/03630269.2024.2410295

Shabnam Tavassoli, Jong H Chung, Arun R Panigrahi, Azadeh Shahsavar, Ashutosh Lal, Sylvia Titi Singer

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引用次数: 0

摘要

我们报告了α2-球蛋白基因的一种新型突变，这种突变导致α链变长。这种新型换框突变是在阿富汗巴尔赫省的一名 13 岁男孩身上发现的。DNA 分析发现，在密码子 132[HBA2:c.396dup (p.Val134fs)]处插入了胸腺嘧啶 (T)。我们将这种新型血红蛋白变异体命名为 "巴尔赫血红蛋白"，以纪念患者的出生地。该新型变异体与α3.7 kb α-球蛋白基因缺失有关，这表明复合杂合状态导致了患者的临床表现。

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Hemoglobin Balkh, a Novel Mutation in Codon 132 of α2-Globin Gene [α132(H15) (+T) or HBA2:C.396dup (p.Val134fs)]: A Case Report and Insight into the Pathophysiology.

We report a novel mutation on α2-globin gene leading to an elongated α-chain. This novel frameshift mutation was detected in a 13-year-old boy from Balkh province, Afghanistan. DNA analysis identified an insertion of thymine (T) at codon 132 [HBA2:c.396dup (p.Val134fs)]. We named the novel hemoglobin variant 'Hemoglobin Balkh' after the geographic location from which the patient originated. This novel variant was found in association with α3.7 kb α-globin gene deletion, suggesting a compound heterozygous state that contributes to the patient's clinical presentation.

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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