Azimi Azam, Alibakhshi Reza, Hayati Hasibeh, Tahmasebi Soosan, Alimoradi Sasan
a Medical Genetics Laboratory, Kermanshah University of Medical Sciences , Kermanshah , Iran.
b Department of Biochemistry , School of Medicine, Kermanshah University of Medical Sciences , Kermanshah , Iran.
Hemoglobin. 2017 Jan;41(1):44-46. doi: 10.1080/03630269.2017.1308376. Epub 2017 May 5.
Thalassemia is the most common inherited disorder in Iran. There are approximately 800 different genomic alterations of the β-globin gene described in the HbVar database. In this study, we identified a novel mutation in a 21-year-old woman [IVS-II-648/649 (-T); HBB: c.316-202del)] and describe its clinical implications. Two other members of this family, all with hematological and clinical features associated with β-thalassemia (β-thal), also carried this mutation. The molecular diagnosis of the β-globin gene mutation was performed by direct sequencing. Based on the observed β-thal phenotype and in silico analysis results, we concluded that this novel β-globin gene mutation was associated with the mild phenotype of β-thal.
地中海贫血是伊朗最常见的遗传性疾病。HbVar数据库中描述了约800种不同的β-珠蛋白基因的基因组改变。在本研究中，我们在一名21岁女性中鉴定出一种新的突变[IVS-II-648/649（-T）；HBB：c.316-202del]，并描述了其临床意义。该家族的另外两名成员，均具有与β地中海贫血（β-地贫）相关的血液学和临床特征，也携带此突变。通过直接测序进行β-珠蛋白基因突变的分子诊断。基于观察到的β-地贫表型和计算机分析结果，我们得出结论，这种新的β-珠蛋白基因突变与β-地贫的轻度表型相关。
