Title |
Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah
|
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Published in |
Journal of Human Genetics, December 2013
|
DOI | 10.1038/jhg.2013.131 |
Pubmed ID | |
Authors |
Lai Kuan Teh, Elizabeth George, Mei I Lai, Jin Ai Mary Anne Tan, Lily Wong, Patimah Ismail |
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 β(0)-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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Demographic breakdown
Readers by professional status | Count | As % |
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Student > Bachelor | 10 | 14% |
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Researcher | 5 | 7% |
Other | 4 | 6% |
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