a-Thalassemia trait caused by frameshift mutations in exon 2 of the a2-globin gene: HBA2:c.131delT and HBA2:c.143delA
| dc.contributor.author | Finlayson, J. | |
| dc.contributor.author | Ghassemifar, Reza | |
| dc.contributor.author | Holmes, P. | |
| dc.contributor.author | Grey, D. | |
| dc.contributor.author | Newbound, C. | |
| dc.contributor.author | Pell, N. | |
| dc.contributor.author | Jennens, M. | |
| dc.contributor.author | Greenwood, L. | |
| dc.contributor.author | Beilby, J. | |
| dc.date.accessioned | 2017-01-30T15:36:14Z | |
| dc.date.available | 2017-01-30T15:36:14Z | |
| dc.date.created | 2015-10-29T04:09:57Z | |
| dc.date.issued | 2012 | |
| dc.identifier.citation | Finlayson, J. and Ghassemifar, R. and Holmes, P. and Grey, D. and Newbound, C. and Pell, N. and Jennens, M. et al. 2012. a-Thalassemia trait caused by frameshift mutations in exon 2 of the a2-globin gene: HBA2:c.131delT and HBA2:c.143delA. Hemoglobin. 36 (5): pp. 511-515. | |
| dc.identifier.uri | http://hdl.handle.net/20.500.11937/47879 | |
| dc.identifier.doi | 10.3109/03630269.2012.717053 | |
| dc.description.abstract |
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. | |
| dc.title | a-Thalassemia trait caused by frameshift mutations in exon 2 of the a2-globin gene: HBA2:c.131delT and HBA2:c.143delA | |
| dc.type | Journal Article | |
| dcterms.source.volume | 36 | |
| dcterms.source.number | 5 | |
| dcterms.source.startPage | 511 | |
| dcterms.source.endPage | 515 | |
| dcterms.source.issn | 0363-0269 | |
| dcterms.source.title | Hemoglobin | |
| curtin.department | School of Biomedical Sciences | |
| curtin.accessStatus | Fulltext not available |