a-Thalassemia trait caused by frameshift mutations in exon 2 of the a2-globin gene: HBA2:c.131delT and HBA2:c.143delA
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 d...
| Main Authors: | , , , , , , , , |
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| Format: | Journal Article |
| Published: |
2012
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| Online Access: | http://hdl.handle.net/20.500.11937/47879 |
| _version_ | 1848757955848044544 |
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| author | Finlayson, J. Ghassemifar, Reza Holmes, P. Grey, D. Newbound, C. Pell, N. Jennens, M. Greenwood, L. Beilby, J. |
| author_facet | Finlayson, J. Ghassemifar, Reza Holmes, P. Grey, D. Newbound, C. Pell, N. Jennens, M. Greenwood, L. Beilby, J. |
| author_sort | Finlayson, J. |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | 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. |
| first_indexed | 2025-11-14T09:36:19Z |
| format | Journal Article |
| id | curtin-20.500.11937-47879 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T09:36:19Z |
| publishDate | 2012 |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-478792017-09-13T14:18:22Z a-Thalassemia trait caused by frameshift mutations in exon 2 of the a2-globin gene: HBA2:c.131delT and HBA2:c.143delA Finlayson, J. Ghassemifar, Reza Holmes, P. Grey, D. Newbound, C. Pell, N. Jennens, M. Greenwood, L. Beilby, J. 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. 2012 Journal Article http://hdl.handle.net/20.500.11937/47879 10.3109/03630269.2012.717053 restricted |
| spellingShingle | Finlayson, J. Ghassemifar, Reza Holmes, P. Grey, D. Newbound, C. Pell, N. Jennens, M. Greenwood, L. Beilby, J. a-Thalassemia trait caused by frameshift mutations in exon 2 of the a2-globin gene: HBA2:c.131delT and HBA2:c.143delA |
| title | a-Thalassemia trait caused by frameshift mutations in exon 2 of the a2-globin gene: HBA2:c.131delT and HBA2:c.143delA |
| title_full | a-Thalassemia trait caused by frameshift mutations in exon 2 of the a2-globin gene: HBA2:c.131delT and HBA2:c.143delA |
| title_fullStr | a-Thalassemia trait caused by frameshift mutations in exon 2 of the a2-globin gene: HBA2:c.131delT and HBA2:c.143delA |
| title_full_unstemmed | a-Thalassemia trait caused by frameshift mutations in exon 2 of the a2-globin gene: HBA2:c.131delT and HBA2:c.143delA |
| title_short | a-Thalassemia trait caused by frameshift mutations in exon 2 of the a2-globin gene: HBA2:c.131delT and HBA2:c.143delA |
| title_sort | a-thalassemia trait caused by frameshift mutations in exon 2 of the a2-globin gene: hba2:c.131delt and hba2:c.143dela |
| url | http://hdl.handle.net/20.500.11937/47879 |