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

Hemoglobin 2016 Sep;40(5):369-370

a Hamilton Regional Laboratory Medicine Program , Hamilton Health Sciences , Hamilton , Ontario , Canada.

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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http://dx.doi.org/10.1080/03630269.2016.1236028DOI Listing
September 2016

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