A Novel Frameshift Mutation at Codons 138/139 (HBB: c.417_418insT) on the β-Globin Gene Leads to β-Thalassemia

• Published in: Hemoglobin Vol. 41; no. 1; pp. 59 - 60
• Main Authors: Jiang, Fan, Huang, Lv-Yin, Chen, Gui-Lan, Zhou, Jian-Ying, Xie, Xing-Mei, Li, Dong-Zhi
• Format: Journal Article
• Language: English
• Published: England Taylor & Francis 02.01.2017
• Subjects: Adult; Alleles; Amino Acid Substitution; beta-Globins - genetics; beta-Thalassemia - blood; beta-Thalassemia - diagnosis; beta-Thalassemia - genetics; Codon; DNA Mutational Analysis; Erythrocyte Indices; Exons; Frameshift Mutation; Genetic Association Studies; Heterozygote; Humans; Male; Phenotype; β-Globin gene; β-thalassemia; frameshift mutation; β-Globin gene; β-thalassemia

We describe a new β-thalassemic mutation in a Chinese subject. This allele develops by insertion of one nucleotide (+T) between codons 138 and 139 in the third exon of the β-globin gene. The mutation causes a frameshift that leads to a termination codon at codon 139. In the heterozygote, this allele...