Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah
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 frequ...
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| Format: | Article |
| Language: | English |
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The Japan Society of Human Genetics
2014
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| Online Access: | http://psasir.upm.edu.my/id/eprint/34568/1/Molecular%20basis%20of%20transfusion%20dependent%20beta-thalassemia%20major%20patients%20in%20Sabah.pdf |
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| author | Teh, Lai Kuan George, Elizabeth Lai, Mei I. Tan, Mary Anne Jin Ai Wong, Lily Ismail, Patimah |
| author_facet | Teh, Lai Kuan George, Elizabeth Lai, Mei I. Tan, Mary Anne Jin Ai Wong, Lily Ismail, Patimah |
| author_sort | Teh, Lai Kuan |
| collection | UPM |
| description | 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 |
| first_indexed | 2024-03-06T08:29:23Z |
| format | Article |
| id | upm.eprints-34568 |
| institution | Universiti Putra Malaysia |
| language | English |
| last_indexed | 2024-03-06T08:29:23Z |
| publishDate | 2014 |
| publisher | The Japan Society of Human Genetics |
| record_format | dspace |
| spelling | upm.eprints-345682016-11-30T02:15:41Z http://psasir.upm.edu.my/id/eprint/34568/ Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah Teh, Lai Kuan George, Elizabeth Lai, Mei I. Tan, Mary Anne Jin Ai Wong, Lily Ismail, Patimah 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 The Japan Society of Human Genetics 2014-03 Article PeerReviewed application/pdf en http://psasir.upm.edu.my/id/eprint/34568/1/Molecular%20basis%20of%20transfusion%20dependent%20beta-thalassemia%20major%20patients%20in%20Sabah.pdf 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 http://www.nature.com/jhg/journal/v59/n3/abs/jhg2013131a.html 10.1038/jhg.2013.131 |
| spellingShingle | Teh, Lai Kuan George, Elizabeth Lai, Mei I. Tan, Mary Anne Jin Ai Wong, Lily Ismail, Patimah Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah |
| title | Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah |
| title_full | Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah |
| title_fullStr | Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah |
| title_full_unstemmed | Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah |
| title_short | Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah |
| title_sort | molecular basis of transfusion dependent beta thalassemia major patients in sabah |
| url | http://psasir.upm.edu.my/id/eprint/34568/1/Molecular%20basis%20of%20transfusion%20dependent%20beta-thalassemia%20major%20patients%20in%20Sabah.pdf |
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