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Hemoglobin
international journal for hemoglobin research
Volume 40, 2016 - Issue 5
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Short Communication

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

, , , , &
Pages 369-370 | Received 13 Jul 2016, Accepted 26 Jul 2016, Published online: 08 Nov 2016
 

Abstract

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.

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

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