a-Thalassemia trait caused by frameshift mutations in exon 2 of the a2-globin gene: HBA2:c.131delT and HBA2:c.143delA
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Authors
Finlayson, J.
Ghassemifar, Reza
Holmes, P.
Grey, D.
Newbound, C.
Pell, N.
Jennens, M.
Greenwood, L.
Beilby, J.
Date
2012Type
Journal Article
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Finlayson, J. and Ghassemifar, R. and Holmes, P. and Grey, D. and Newbound, C. and Pell, N. and Jennens, M. et al. 2012. a-Thalassemia trait caused by frameshift mutations in exon 2 of the a2-globin gene: HBA2:c.131delT and HBA2:c.143delA. Hemoglobin. 36 (5): pp. 511-515.
Source Title
Hemoglobin
ISSN
School
School of Biomedical Sciences
Collection
Abstract
We describe two frameshift mutations associated with an a-thalassemia (a-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.