Hb lynwood [a107(G14) (-T) (a2) HBA2:c.323delT)] in conjunction with the a3.7 deletion produces a moderately severe a-thalassemia phenotype
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Authors
Finlayson, J.
Ghassemifar, Reza
Holmes, P.
Grey, D.
Newbound, C.
Pell, N.
Jennens, M.
MacAulay, C.
Greenwood, L.
Beilby, J.
Date
2011Type
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. 2011. Hb lynwood [a107(G14) (-T) (a2) HBA2:c.323delT)] in conjunction with the a3.7 deletion produces a moderately severe a-thalassemia phenotype. Hemoglobin. 35 (2): pp. 142-146.
Source Title
Hemoglobin
ISSN
School
School of Biomedical Sciences
Collection
Abstract
We describe a novel frameshift mutation associated with an a-thalassemia (a-thal) phenotype in a patient of Sudanese origin investigated for persistent microcytosis. In addition to the a3.7 deletion, a novel mutation on the a2 gene was detected: HBA2:c.323delT. This mutation causes a frameshift at codon 107 of the a2 gene. The result is a disturbed amino acid sequence for the following 24 amino acids, and a premature termination codon at position 132. © 2011 Informa Healthcare USA, Inc.