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Article

Novel Mutation of the Translation Initiation Codon of the α1-Globin Gene (ATG>AAG or HBA1:c.2T>A).

Hemoglobin - 1 Sept 2016

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

Abstract excerpt

We report two Italian-Canadian families with α+-thalassemia (α+-thal) trait caused by a novel mutation of the translation initiation codon of the α1-globin gene (ATG>AAG or HBA1:c.2T>A). This is the tenth reported α-thal mutation involving the translation initiation codon or the conserved Kozak consensus sequences of the HBA2 or HBA1 genes.

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Source

Identifiers

PMID: 27821014
DOI: 10.1080/03630269.2016.1236028

Genes

HBA1
HBA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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