IVS-II-648/649 (–T) (HBB: c.316−202del) Triggers a Novel β-Thalassemia Phenotype. (2nd January 2017)

• Record Type: Journal Article
• Authors: Azimi, Azam; Alibakhshi, Reza; Hayati, Hasibeh; Tahmasebi, Soosan; Alimoradi, Sasan
• Is Part Of: Hemoglobin. Volume 41:Number 1(2017)
• Page Start: 44
• Page End: 46
• Publication Date: 2017-01-02
• Subjects: β-Globin gene -- β-thalassemia (β-thal) -- in silico analysis -- novel mutation; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2017.1308376
• Languages: English
• ISSNs: 0363-0269

Abstract

Abstract: 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.