Abstract
Beta-thalassemia is one of the most prevalent inherited diseases and a public health problem in Malaysia. Malaysia is geographically divided into West and East Malaysia. In Sabah, a state in East Malaysia, there are over 1000 estimated cases of β-thalassemia major patients. Accurate population frequency data of the molecular basis of β-thalassemia major are needed for planning its control in the high-risk population of Sabah. Characterization of β-globin gene defects was done in 252 transfusion dependent β-thalassemia patients incorporating few PCR techniques. The study demonstrates that β-thalassemia mutations inherited are ethnically dependent. It is important to note that 86.9% of transfusion-dependent β-thalassemia major patients in Sabah were of the indigenous population and homozygous for a single mutation. The Filipino β0-deletion was a unique mutation found in the indigenous population of Sabah. Mutations common in West Malaysia were found in 11 (4.3%) patients. Four rare mutations (Hb Monroe, CD 8/9, CD 123/124/125 and IVS I-2) were also found. This study is informative on the population genetics of β-thalassemia major in Sabah.
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Acknowledgements
We thank the Director General of Health, Malaysia for permission to publish this paper (NMRR-10-850-7075). This study was supported by E-Science Research Grant, Ministry of Science, Technology and Innovation (MOSTI) 02-01-04-SF1031 awarded to George Elizabeth.
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Teh, L., George, E., Lai, M. et al. Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah. J Hum Genet 59, 119–123 (2014). https://doi.org/10.1038/jhg.2013.131
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DOI: https://doi.org/10.1038/jhg.2013.131
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