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. |
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| Format: | Journal Article
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| Published: |
2011
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| Online Access: | http://hdl.handle.net/20.500.11937/42669
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