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Hemoglobin
international journal for hemoglobin research
Volume 39, 2015 - Issue 3
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Short Communication

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

, , , , &
Pages 209-210 | Received 13 Dec 2014, Accepted 20 Feb 2015, Published online: 21 Apr 2015
 

Abstract

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.

Declaration of interest

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

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