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Concurrent inheritance of deletional a-thalassaemia in Malays with HbE trait

Teh, Lai Kuan and George, Elizabeth and Lai, Mei I. and Ahmad, Rahimah and Zakaria, Zubaidah and Tan, Jin Ai Mary Anne (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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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.

Item Type:Article
Keyword:α-thalassaemia; Concurrent inheritance; HbE trait; Malays
Faculty or Institute:Faculty of Medicine and Health Science
Publisher:Faculty of Medicine and Health Sciences, Universiti Putra Malaysia
ID Code:7629
Deposited By: Mohd Zulkifly Othman
Deposited On:03 Aug 2010 14:47
Last Modified:08 Sep 2015 16:21

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