Alpha thalassaemia due to non-deletional mutations on the -3.7 alpha globin fusion gene: Laboratory diagnosis and clinical importance
Aims: Alpha (α) thalassaemia may be caused by large deletions of the α globin gene(s), or rarely, non-deletional mutations. Both types of mutations may co-exist, and if located on the same allele (α0), produce a reproductive risk of hydrops fetalis. We illustrate how clinical-laboratory correlation...
| Main Authors: | , , |
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| Format: | Journal Article |
| Published: |
2013
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| Online Access: | http://hdl.handle.net/20.500.11937/38804 |
| _version_ | 1848755419126693888 |
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| author | Chow, A. Ghassemifar, Reza Finlayson, J. |
| author_facet | Chow, A. Ghassemifar, Reza Finlayson, J. |
| author_sort | Chow, A. |
| building | Curtin Institutional Repository |
| collection | Online Access |
| description | Aims: Alpha (α) thalassaemia may be caused by large deletions of the α globin gene(s), or rarely, non-deletional mutations. Both types of mutations may co-exist, and if located on the same allele (α0), produce a reproductive risk of hydrops fetalis. We illustrate how clinical-laboratory correlation and accurate α gene sequencing are essential in identifying such patients. Method: Nine asymptomatic patients with - α 3.7 thalassaemia trait were noted to have significant microcytosis that was insufficiently explained by a single α deletion. Hence α1 and α2 globin gene sequencing were performed, which detected a non-deletional mutation in all patients. A new set of α1 specific primers were designed for separate sequencing of the α1 gene and the - α 3.7 fusion gene, respectively, so that the non-deletional mutation could be localised to the correct allele. Results: In six of nine patients tested, the non-deletional mutation was on the α1 globin gene. In three patients the mutation was located on the - α 3.7 fusion gene. The latter group functionally has an α0 allele (αα/–) with a reproductive risk for Hb Barts hydrops fetalis. Conclusion: Non-deletional mutations can occur on the α globin gene or a fusion gene such as the - α3.7 allele. Identification and accurate localisation of these mutations is important as this can have significant reproductive implications. |
| first_indexed | 2025-11-14T08:56:00Z |
| format | Journal Article |
| id | curtin-20.500.11937-38804 |
| institution | Curtin University Malaysia |
| institution_category | Local University |
| last_indexed | 2025-11-14T08:56:00Z |
| publishDate | 2013 |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | curtin-20.500.11937-388042017-09-13T14:15:45Z Alpha thalassaemia due to non-deletional mutations on the -3.7 alpha globin fusion gene: Laboratory diagnosis and clinical importance Chow, A. Ghassemifar, Reza Finlayson, J. Aims: Alpha (α) thalassaemia may be caused by large deletions of the α globin gene(s), or rarely, non-deletional mutations. Both types of mutations may co-exist, and if located on the same allele (α0), produce a reproductive risk of hydrops fetalis. We illustrate how clinical-laboratory correlation and accurate α gene sequencing are essential in identifying such patients. Method: Nine asymptomatic patients with - α 3.7 thalassaemia trait were noted to have significant microcytosis that was insufficiently explained by a single α deletion. Hence α1 and α2 globin gene sequencing were performed, which detected a non-deletional mutation in all patients. A new set of α1 specific primers were designed for separate sequencing of the α1 gene and the - α 3.7 fusion gene, respectively, so that the non-deletional mutation could be localised to the correct allele. Results: In six of nine patients tested, the non-deletional mutation was on the α1 globin gene. In three patients the mutation was located on the - α 3.7 fusion gene. The latter group functionally has an α0 allele (αα/–) with a reproductive risk for Hb Barts hydrops fetalis. Conclusion: Non-deletional mutations can occur on the α globin gene or a fusion gene such as the - α3.7 allele. Identification and accurate localisation of these mutations is important as this can have significant reproductive implications. 2013 Journal Article http://hdl.handle.net/20.500.11937/38804 10.1097/PAT.0b013e32836526d7 restricted |
| spellingShingle | Chow, A. Ghassemifar, Reza Finlayson, J. Alpha thalassaemia due to non-deletional mutations on the -3.7 alpha globin fusion gene: Laboratory diagnosis and clinical importance |
| title | Alpha thalassaemia due to non-deletional mutations on the -3.7 alpha globin fusion gene: Laboratory diagnosis and clinical importance |
| title_full | Alpha thalassaemia due to non-deletional mutations on the -3.7 alpha globin fusion gene: Laboratory diagnosis and clinical importance |
| title_fullStr | Alpha thalassaemia due to non-deletional mutations on the -3.7 alpha globin fusion gene: Laboratory diagnosis and clinical importance |
| title_full_unstemmed | Alpha thalassaemia due to non-deletional mutations on the -3.7 alpha globin fusion gene: Laboratory diagnosis and clinical importance |
| title_short | Alpha thalassaemia due to non-deletional mutations on the -3.7 alpha globin fusion gene: Laboratory diagnosis and clinical importance |
| title_sort | alpha thalassaemia due to non-deletional mutations on the -3.7 alpha globin fusion gene: laboratory diagnosis and clinical importance |
| url | http://hdl.handle.net/20.500.11937/38804 |