伊朗一例新型 HbG-Coushatta 复合杂合型β地中海贫血症病例报告。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2023-05-15 DOI:10.1038/s41439-023-00243-y

Narges Soozangar, Ehsan Abbaspour, Haleh Mokaber, Zahra Nematollahi, Behzad Davarnia

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引用次数: 0

摘要

一对来自伊朗阿尔达比勒市的 30 岁男性夫妇接受了婚前筛查。HbS/D 区域的异常条带以及高水平的 HbF 和 HbA 2 使我们怀疑受影响的探针可能患有β-地中海贫血的复合杂合状态。因此，我们对受试者进行了β球蛋白链测序，发现了 Hb G-Coushatta [b22 (B4) Glu>Ala, HBB: c.68A>C]与 HBB: IVS-II-1 (G>A) 突变的复合杂合子。

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A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran.

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A novel compound heterozygous of β-thalassemia with HbG-Coushatta: case report of Iran.

A 30-year-old male couple from Ardabil city, Iran, were admitted for premarital screening. An abnormal band in HbS/D regions with high levels of HbF and HbA 2 led us to suspect the possibility of a compound heterozygous state of β-thalassemia in our affected proband. Therefore, beta globin chain sequencing of proband discovered a heterozygote combination of the Hb G-Coushatta [b22 (B4) Glu>Ala, HBB: c.68A>C) with HBB: IVS-II-1 (G>A) mutation as a compound heterozygote.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks