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Article

α(+)-Thalassemia Due to a Frameshift Mutation of the α2-Globin Gene [codons 55/56 (+T) or HBA2: c.168dup].

Hemoglobin - 1 Jan 2015

Waye John S, Eng Barry, Hanna Meredith, Hohenadel Betty-Ann, Nakamura Lisa M, Walker Lynda

Abstract excerpt

We report a case of α(+)-thalassemia (α(+)-thal) trait in a Chinese-Canadian family caused by a novel frameshift mutation of the α2-globin gene, specifically the duplication of a single nucleotide at amino acid codon 56 [HBA2: c.168dup]. The mutation results in substitution of a termination codon (TAA) for lysine (AAG) at amino acid position 56.

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Source

Identifiers

PMID: 25897479
DOI: 10.3109/03630269.2015.1030410

Genes

HBA2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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