Characterization of Two Novel Deletions Involving the 5′ Region of the β-Globin Gene. (2nd November 2017)

• Record Type: Journal Article
• Authors: Waye, John S.; Hanna, Meredith; Hohenadel, Betty-Ann; Nakamura, Lisa; Walker, Lynda; Eng, Barry
• Is Part Of: Hemoglobin. Volume 41:Number 4/5/6(2017)
• Page Start: 239
• Page End: 242
• Publication Date: 2017-11-02
• Subjects: β-Globin gene -- deletion -- promoter; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2017.1397015
• Languages: English
• ISSNs: 0363-0269

Abstract

Abstract: We report two novel β-thalassemia (β-thal) deletions involving the 5′ region of the β-globin gene ( HBB ). The first deletion spans 538 bp and removes the β-globin promoter, 5′ untranslated region (5′UTR) and most of exon 1. This deletion was identified in a 3-year-old Vietnamese boy with non transfusion dependent Hb E ( HBB : c.79G>A)/β 0 -thal. The second deletion spans 1517 bp and removes the β-globin gene promoter, 5′UTR, and exons 1 and 2. This deletion was identified in two unrelated adults of European descent who had β-thal trait with unusually high Hb A2 levels. Deletions such as these are generally associated with higher levels of Hb A2 and Hb F than typical β-thal alleles, which may ameliorate the severity of the disease.