Concurrent Inheritance of Deletional a-thalassaemia in Malays with HbE Trait
Introduction: HbE is the commonest beta haemoglobin (Hb) variant in Southeast Asia. It causes a reduction in synthesis of the beta-globin E chain. Studies indicate HbE coinherited with a-thalassaemia leads to milder clinical phenotype. This study investigates the commitant inheritance of a-thalassae...
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my.um.eprints.37112013-03-13T08:06:18Z http://eprints.um.edu.my/3711/ Concurrent Inheritance of Deletional a-thalassaemia in Malays with HbE Trait Teh, L.K. George, E. Lai, M.I. Ahmad, R. Zakaria, Z. Tan, J. R Medicine Introduction: HbE is the commonest beta haemoglobin (Hb) variant in Southeast Asia. It causes a reduction in synthesis of the beta-globin E chain. Studies indicate HbE coinherited with a-thalassaemia leads to milder clinical phenotype. This study investigates the commitant inheritance of a-thalassaemia in Malays with HbE. Methods: Four hundred and fourteen (414) blood samples were screened for haemoglobinopathy using primarily the first three steps of the BHES (B) blood counts, blood film; (H), HPLC; (E) electrophoresis; (S), stability protocol. Complete blood cell analyser, Hb typing with cation exchange high-performance liquid chromatography (HPLC) and Hb electrophoresis at an alkaline pH (pH 8.5) Forty-five (10.9%) were identified as HbE trait and DNA analysis was done for deletional a-thalassaemia using a single-tube multiplex-PCR assay. Results: Among the 45 subjects with HbE trait, 4 (8.9%) were found to have alpha-thalassaemia -2 (a) (a-37 kb deletion) and 1 (2.2%) the alpha-thalassaemia-1 (a0) (---SEA 20.5 kb deletion) defects respectively. Discussion: These findings show that 11.1% of Malays with HbE inherit alpha-thalassaemia concurrently. The most prevalent interaction found was a double heterozygote for HbE /a-thalassaemia 2, followed by HbE/a-thalassaemia 1. Conclusion: Molecular screening of deletional a-thalassaemia identified its concurrent inheritance in 11.1%o of Malays who were HbE carriers. This information will guide genetic counseling and the planning of treatment modalities in patients with HbE alpha-thalassaemia. 2009 Article PeerReviewed application/pdf en http://eprints.um.edu.my/3711/1/The_concurrent_inheritance_of_deletional_alpha-thalassaemia.pdf Teh, L.K. and George, E. and Lai, M.I. and Ahmad, R. and Zakaria, Z. and Tan, J. (2009) Concurrent Inheritance of Deletional a-thalassaemia in Malays with HbE Trait. Malaysian Journal of Medicine and Health Sciences, 5 (2). pp. 11-18. ISSN 1675-8544 |
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R Medicine Teh, L.K. George, E. Lai, M.I. Ahmad, R. Zakaria, Z. Tan, J. Concurrent Inheritance of Deletional a-thalassaemia in Malays with HbE Trait |
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Introduction: HbE is the commonest beta haemoglobin (Hb) variant in Southeast Asia. It causes a reduction in synthesis of the beta-globin E chain. Studies indicate HbE coinherited with a-thalassaemia leads to milder clinical phenotype. This study investigates the commitant inheritance of a-thalassaemia in Malays with HbE. Methods: Four hundred and fourteen (414) blood samples were screened for haemoglobinopathy using primarily the first three steps of the BHES (B) blood counts, blood film; (H), HPLC; (E) electrophoresis; (S), stability protocol. Complete blood cell analyser, Hb typing with cation exchange high-performance liquid chromatography (HPLC) and Hb electrophoresis at an alkaline pH (pH 8.5) Forty-five (10.9%) were identified as HbE trait and DNA analysis was done for deletional a-thalassaemia using a single-tube multiplex-PCR assay. Results: Among the 45 subjects with HbE trait, 4 (8.9%) were found to have alpha-thalassaemia -2 (a) (a-37 kb deletion) and 1 (2.2%) the alpha-thalassaemia-1 (a0) (---SEA 20.5 kb deletion) defects respectively. Discussion: These findings show that 11.1% of Malays with HbE inherit alpha-thalassaemia concurrently. The most prevalent interaction found was a double heterozygote for HbE /a-thalassaemia 2, followed by HbE/a-thalassaemia 1. Conclusion: Molecular screening of deletional a-thalassaemia identified its concurrent inheritance in 11.1%o of Malays who were HbE carriers. This information will guide genetic counseling and the planning of treatment modalities in patients with HbE alpha-thalassaemia. |
| format |
Article |
| author |
Teh, L.K. George, E. Lai, M.I. Ahmad, R. Zakaria, Z. Tan, J. |
| author_facet |
Teh, L.K. George, E. Lai, M.I. Ahmad, R. Zakaria, Z. Tan, J. |
| author_sort |
Teh, L.K. |
| title |
Concurrent Inheritance of Deletional a-thalassaemia in Malays with HbE Trait |
| title_short |
Concurrent Inheritance of Deletional a-thalassaemia in Malays with HbE Trait |
| title_full |
Concurrent Inheritance of Deletional a-thalassaemia in Malays with HbE Trait |
| title_fullStr |
Concurrent Inheritance of Deletional a-thalassaemia in Malays with HbE Trait |
| title_full_unstemmed |
Concurrent Inheritance of Deletional a-thalassaemia in Malays with HbE Trait |
| title_sort |
concurrent inheritance of deletional a-thalassaemia in malays with hbe trait |
| publishDate |
2009 |
| url |
http://eprints.um.edu.my/3711/1/The_concurrent_inheritance_of_deletional_alpha-thalassaemia.pdf http://eprints.um.edu.my/3711/ |
| _version_ |
1643687182798422016 |
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13.211869 |