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...
| Main Authors: | , , , , , , , , , |
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| Format: | Journal Article |
| Published: |
2011
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| Online Access: | http://hdl.handle.net/20.500.11937/42669 |
| _version_ | 1848756484472569856 |
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| author | Finlayson, J. Ghassemifar, Reza Holmes, P. Grey, D. Newbound, C. Pell, N. Jennens, M. MacAulay, C. Greenwood, L. Beilby, J. |
| author_facet | Finlayson, J. Ghassemifar, Reza Holmes, P. Grey, D. Newbound, C. Pell, N. Jennens, M. MacAulay, C. Greenwood, L. Beilby, J. |
| author_sort | Finlayson, J. |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | 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. |
| first_indexed | 2025-11-14T09:12:56Z |
| format | Journal Article |
| id | curtin-20.500.11937-42669 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T09:12:56Z |
| publishDate | 2011 |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-426692017-09-13T14:24:48Z Hb lynwood [a107(G14) (-T) (a2) HBA2:c.323delT)] in conjunction with the a3.7 deletion produces a moderately severe a-thalassemia phenotype Finlayson, J. Ghassemifar, Reza Holmes, P. Grey, D. Newbound, C. Pell, N. Jennens, M. MacAulay, C. Greenwood, L. Beilby, J. 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. 2011 Journal Article http://hdl.handle.net/20.500.11937/42669 10.3109/03630269.2011.557462 restricted |
| spellingShingle | Finlayson, J. Ghassemifar, Reza Holmes, P. Grey, D. Newbound, C. Pell, N. Jennens, M. MacAulay, C. Greenwood, L. Beilby, J. Hb lynwood [a107(G14) (-T) (a2) HBA2:c.323delT)] in conjunction with the a3.7 deletion produces a moderately severe a-thalassemia phenotype |
| title | Hb lynwood [a107(G14) (-T) (a2) HBA2:c.323delT)] in conjunction with the a3.7 deletion produces a moderately severe a-thalassemia phenotype |
| title_full | Hb lynwood [a107(G14) (-T) (a2) HBA2:c.323delT)] in conjunction with the a3.7 deletion produces a moderately severe a-thalassemia phenotype |
| title_fullStr | Hb lynwood [a107(G14) (-T) (a2) HBA2:c.323delT)] in conjunction with the a3.7 deletion produces a moderately severe a-thalassemia phenotype |
| title_full_unstemmed | Hb lynwood [a107(G14) (-T) (a2) HBA2:c.323delT)] in conjunction with the a3.7 deletion produces a moderately severe a-thalassemia phenotype |
| title_short | Hb lynwood [a107(G14) (-T) (a2) HBA2:c.323delT)] in conjunction with the a3.7 deletion produces a moderately severe a-thalassemia phenotype |
| title_sort | hb lynwood [a107(g14) (-t) (a2) hba2:c.323delt)] in conjunction with the a3.7 deletion produces a moderately severe a-thalassemia phenotype |
| url | http://hdl.handle.net/20.500.11937/42669 |