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-thalass...
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| Format: | Article |
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Faculty of Medicine and Health Sciences, Universiti Putra Malaysia
2009
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| Online Access: | http://psasir.upm.edu.my/id/eprint/7629/ http://psasir.upm.edu.my/id/eprint/7629/1/Concurrent%20inheritance%20of%20deletional%20a-thalassaemia%20in%20Malays%20with%20HbE%20trait.pdf |
| _version_ | 1848840649271410688 |
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| author | Teh, Lai Kuan George, Elizabeth Lai, Mei I. Ahmad, Rahimah Zakaria, Zubaidah Tan, Mary Anne Jin Ai |
| author_facet | Teh, Lai Kuan George, Elizabeth Lai, Mei I. Ahmad, Rahimah Zakaria, Zubaidah Tan, Mary Anne Jin Ai |
| author_sort | Teh, Lai Kuan |
| building | UPM Institutional Repository |
| collection | Online Access |
| description | 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. |
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| format | Article |
| id | upm-7629 |
| institution | Universiti Putra Malaysia |
| institution_category | Local University |
| language | English |
| last_indexed | 2025-11-15T07:30:42Z |
| publishDate | 2009 |
| publisher | Faculty of Medicine and Health Sciences, Universiti Putra Malaysia |
| recordtype | eprints |
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| spelling | upm-76292016-11-30T01:36:29Z http://psasir.upm.edu.my/id/eprint/7629/ Concurrent inheritance of deletional a-thalassaemia in Malays with HbE trait Teh, Lai Kuan George, Elizabeth Lai, Mei I. Ahmad, Rahimah Zakaria, Zubaidah Tan, Mary Anne Jin Ai 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. Faculty of Medicine and Health Sciences, Universiti Putra Malaysia 2009 Article PeerReviewed application/pdf en http://psasir.upm.edu.my/id/eprint/7629/1/Concurrent%20inheritance%20of%20deletional%20a-thalassaemia%20in%20Malays%20with%20HbE%20trait.pdf Teh, Lai Kuan and George, Elizabeth and Lai, Mei I. and Ahmad, Rahimah and Zakaria, Zubaidah and Tan, Mary Anne Jin Ai (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 http://www.medic.upm.edu.my/dokumen/FKUSK1_MJMHS_2009V05N2_OP02.pdf |
| spellingShingle | Teh, Lai Kuan George, Elizabeth Lai, Mei I. Ahmad, Rahimah Zakaria, Zubaidah Tan, Mary Anne Jin Ai Concurrent inheritance of deletional a-thalassaemia in Malays with HbE trait |
| title | 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_short | Concurrent inheritance of deletional a-thalassaemia in Malays with HbE trait |
| title_sort | concurrent inheritance of deletional a-thalassaemia in malays with hbe trait |
| url | http://psasir.upm.edu.my/id/eprint/7629/ http://psasir.upm.edu.my/id/eprint/7629/ http://psasir.upm.edu.my/id/eprint/7629/1/Concurrent%20inheritance%20of%20deletional%20a-thalassaemia%20in%20Malays%20with%20HbE%20trait.pdf |