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Hemoglobin
international journal for hemoglobin research
Volume 36, 2012 - Issue 2
83
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Short Communications

α+-Thalassemia Trait Caused by a Frameshift Mutation in Exon 2 of the α2-Globin Gene [HBA2 c.244delT]

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Pages 205-207 | Received 24 Oct 2011, Accepted 12 Nov 2011, Published online: 29 Feb 2012
 

Abstract

We report a case of α+-thalassemia (α+-thal) trait caused by a novel frameshift mutation in exon 2 of the α2-globin gene, specifically a deletion of a single nucleotide at amino acid codon 81 [HBA2 c.244delT]. The mutation results in a premature termination of translation at codon 83.

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