Eftekhari Hajar, Pilehchian Langroudi Maryam, Banihashemi Ali, Azizi Mandana, Kamangar Reza Youssefi, Akhavan-Niaki Haleh
1Department of Genetics, Faculty of Medicine, Babol University of Medical Sciences, Babol, Iran.
2Genetic Laboratory, Amirkola Children's Hospital, Babol University of Medical Sciences, Babol, Iran.
Indian J Clin Biochem. 2018 Apr;33(2):231-234. doi: 10.1007/s12291-017-0676-z. Epub 2017 Jul 5.
α-Thalassemia (α-thal) is considered as the most common inherited hemoglobin disorder worldwide. The present study describes the first observation of a combination of rare α-chain variants, and β-globin gene cluster deletion. A 21-year-old woman with thalassemia trait, marked microcytosis, mild anemia, and normal range of Hb F was referred to Amirkola genetic center in the North of Iran for routine molecular test of thalassemia in the context of carrier detection and prevention of thalassemia major birth. Nucleotide sequencing revealed a novel compound heterozygosity status for two non-deletional mutations on , Hb O Indonesia (α116(GH4)Glu → Lys), and Hb Matsue-Oki (α75 (EF4) Asp → Asn), together with heterozygosity for the sicilian (δβ)-thal mutation. This finding highlights the necessity of deep molecular investigation of thalassemia in regions where thalassemia is abundant, and present highly heterogeneous population.
α地中海贫血（α-thal）被认为是全球最常见的遗传性血红蛋白疾病。本研究描述了首次观察到罕见的α链变体与β珠蛋白基因簇缺失的组合。一名21岁患有地中海贫血特征、显著小红细胞症、轻度贫血且Hb F在正常范围的女性，因在携带者检测及预防重型地中海贫血出生的背景下进行地中海贫血常规分子检测，被转诊至伊朗北部的阿米科拉遗传中心。核苷酸测序显示，其存在一种新的复合杂合状态，即 上的两个非缺失突变，Hb O印度尼西亚型（α116（GH4）谷氨酸→赖氨酸）和Hb松江市 - 冲型（α75（EF4）天冬氨酸→天冬酰胺），以及西西里岛（δβ）-地中海贫血突变的杂合性。这一发现凸显了在地中海贫血高发且人群高度异质的地区对地中海贫血进行深入分子研究的必要性。
