Hb lynwood [a107(G14) (-T) (a2) HBA2:c.323delT)] in conjunction with the a3.7 deletion produces a moderately severe a-thalassemia phenotype

Hb lynwood [a107(G14) (-T) (a2) HBA2:c.323delT)] in conjunction with the a3.7 deletion produces a moderately severe a-thalassemia phenotype

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 c...

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Bibliographic Details
Main Authors: Finlayson, J., Ghassemifar, Reza, Holmes, P., Grey, D., Newbound, C., Pell, N., Jennens, M., MacAulay, C., Greenwood, L., Beilby, J.
Format: Journal Article
Published: 2011
Online Access:http://hdl.handle.net/20.500.11937/42669

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