Title : A Novel Pathogenic Beta-Thalassemia Mutation Identified at Codon 8 (HBB: c.27delG) in a Bangladeshi Family Acquired De Novo

Authors : Kazi N. Hasan, Abu Sufian, Ashish K. Mazumder, M. Abdul Khaleque, Mizanur Rahman & Sharif Akhteruzzaman

Abstract : In Bangladesh, the practice of beta-thalassemia (beta-thal) carrier screening and prenatal diagnosis (PND) by beta-globin gene sequencing has been initiated to prevent the birth of affected children. The study aimed to describe a novel de novo mutation of the beta-globin gene and its clinical implication. Out of 100 Bangladeshi beta-thal carrier families, one patient with hematological and clinical features associated with b-thal and her parents were included. Molecular characterizations of beta-globin gene mutations were performed by direct sequencing. A novel nucleotide deletion mutation at codon 8 in the first exon of the beta-globin gene (HBB: c.27delG) was found in a 1-year-old child of the studied family in a heterozygous state along with common Hb E (HBB: c.79G>A). The mutation caused a frameshift to a new stop codon at codon 18 resulting in a beta0-thal phenotype. The proband exhibited a beta-thal intermedia (beta-TI)like genotype, however, showed beta-thal major (beta-TM)-like complications and was transfusion-dependent. Her mother had a profile consistent with the Hb E trait, while the father had normal hematological indices. Mutation analyses revealed the mother to be heterozygous for Hb E, while the father had a normal genotype. The novel mutation was assumed to be inherited de novo by the paternity test. The study documented a novel pathogenic mutation in the beta-globin gene in a Bangladeshi family by beta-globin gene sequencing.

Journal : HEMOGLOBIN Volume : 43 Year : 2019 Issue : 3
Pages : 162–165 City : Edition : Editors :
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