α-thalassemia trait caused by frameshift mutations in exon 2 of the α2-globin gene: HBA2:c.131delT and HBA2:c.143delA.

Jill Finlayson, Reza Ghassemifar, Paula Holmes, Dianne Grey, Christopher Newbound, Nicole Pell, Michelle Jennens, Laura Greenwood, John Beilby

Index: Hemoglobin 36(5) , 511-5, (2012)

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Abstract

We describe two frameshift mutations associated with an α-thalassemia (α-thal) phenotype, identified in three unrelated individuals investigated for persistent microcytosis. The first mutation, HBA2:c.131delT, is located in codon 43, and the second, HBA2:c.143delA, is located in codon 47. Both are due to single base pair deletions that cause a frameshift and a premature termination codon (PTC) at positions 48/49. The presence of a PTC at this position has been documented to result in nonsense mediated mRNA decay that would account for the thalassemic phenotype.