A Novel β0-Thalassemia Mutation, HBB: c.356_357delTT [Codon 118 (–TT)] in an Iraqi Kurd. (4th May 2021)

• Record Type: Journal Article
• Authors: Atroshi, Sulav D.; Al-Allawi, Nasir; Chui, David H.K.; Najmabadi, Hossein; Khailany, Rozhgar A.
• Is Part Of: Hemoglobin. Volume 45:Number 3(2021)
• Page Start: 212
• Page End: 214
• Publication Date: 2021-05-04
• Subjects: β-Thalassemia (β-thal) -- codon 118 (–TT) -- Iraq -- Kurds -- novel mutation; Hemoglobinopathy -- Periodicals; Hemoglobin -- Periodicals; Hematology -- Periodicals; Thalassemia -- Periodicals; Blood -- Diseases -- Periodicals; 612.1111
• DOI: 10.1080/03630269.2021.1941082
• Languages: English
• ISSNs: 0363-0269

Abstract

Abstract: We report a novel frameshift β-thalassemia (β-thal) mutation due to a two-nucleotide deletion at codon 118 of the β-globin gene ( HBB : c.356_357delTT) in a 4-year-old Iraqi Kurd female presenting as transfusion-dependent β-thal. This frameshift mutation, unlike many others involving the third exon, behaved as a recessive β 0 defect and not as dominant β-thal mutation.