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叙利亚一个家庭中观察到的罕见β-珠蛋白基因突变IVS-II-848（C>A）（：c.316-3C>A）与IVS-I-1（G>A）（：c.92+1G>A）相关联的描述：病例报告

Description of a rare β-globin gene mutation, IVS-II-848 (C>A) (: c.316-3C>A) in association with IVS-I-1 (G>A) (: c.92 + 1G>A), observed in a Syrian family: a case report.

作者信息

Shoujaa Ahmad, Mukhalalaty Yasser, Murad Hossam, Al-Quobaili Faizeh

机构信息

Faculty of Pharmacy, Damascus University, Damascus, Syria.

Thalassaemia Centre, Ministry of Health, Damascus, Syria.

出版信息

Hemoglobin. 2019 Jul-Sep;43(4-5):283-285. doi: 10.1080/03630269.2019.1670206. Epub 2019 Nov 12.

DOI:10.1080/03630269.2019.1670206
PMID:31718331
Abstract

β-Thalassemia (β-thal) is a hereditary and heterogeneous group of disorders caused by mutations on the β-globin gene that result in the reduced or non production of β-globin chains. We report a rare β-globin mutation, IVS-II-848 (C>A) (: c.316-3C>A), which was found in a female Syrian patient. This mutation was associated with the IVS-I-1 (G>A) (: c.92+1G>A) mutation, and the genotype is a compound heterozygote for IVS-I-1(G>A)/IVS-II-848(C>A). This combination was found for the first time in Syria.

摘要

β地中海贫血（β-thal）是一组由β珠蛋白基因突变引起的遗传性异质性疾病，这些突变导致β珠蛋白链产生减少或不产生。我们报告了在一名叙利亚女性患者中发现的一种罕见的β珠蛋白突变，即IVS-II-848（C>A）（: c.316-3C>A）。该突变与IVS-I-1（G>A）（: c.92+1G>A）突变相关，其基因型为IVS-I-1（G>A）/IVS-II-848（C>A）的复合杂合子。这种组合在叙利亚首次被发现。

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