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Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah


Teh, Lai Kuan and George, Elizabeth and Lai, Mei I. and Tan, Mary Anne Jin Ai and Wong, Lily and Ismail, Patimah (2014) Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah. Journal of Human Genetics, 59 (3). pp. 119-123. ISSN 1434-5161; ESSN: 1435-232X


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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Additional Metadata

Item Type: Article
Divisions: Faculty of Medicine and Health Science
DOI Number: https://doi.org/10.1038/jhg.2013.131
Publisher: The Japan Society of Human Genetics
Keywords: β globin gene mutations; Beta thalassemia; Filipino β0-deletion; Indigenous population; Sabah
Depositing User: Nurul Ainie Mokhtar
Date Deposited: 18 Jan 2016 06:39
Last Modified: 30 Nov 2016 02:15
Altmetrics: http://www.altmetric.com/details.php?domain=psasir.upm.edu.my&doi=10.1038/jhg.2013.131
URI: http://psasir.upm.edu.my/id/eprint/34568
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