Characterisation of beta-globin gene mutations in malaysian children: a strategy for the control of beta-thalassaemia in a developing country

Thong, M.K.; Tan, J.; Tan, K.L.; Yap, S.F. (2005) Characterisation of beta-globin gene mutations in malaysian children: a strategy for the control of beta-thalassaemia in a developing country. Journal of Tropical Pediatrics, 51 (6). pp. 328-333. ISSN 0142-6338

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    Abstract

    beta-thalassaemia major, an autosomal recessive hemoglobinopathy, is one of the most common single gene disorders in multi-racial Malaysia. The control of beta-thalassaemia major requires a multi-disciplinary approach that includes population screening, genetic counselling, prenatal diagnosis and the option of termination of affected pregnancies. To achieve this objective, the molecular characterisation of the spectrum of beta-globin gene mutations in each of the affected ethnic groups is required. We studied 88 consecutive unrelated individuals and their respective families with beta-thalassaemia (74 beta-thalassaemia major, 12 HbE-beta-thalassaemia, 2 with HbE homozygotes) and four individuals with beta-thalassaemia trait that contributed a total 180 alleles for study. Using a 2-step molecular diagnostic strategy consisting of amplification refractory mutation system (ARMS) to identify the 8 most common mutations followed by other DNA-based diagnostic techniques, a total of 177 (98.3 per cent) of the 180 beta-thalassaemia alleles were characterised. One out of 91 (1 per cent) of the Chinese alleles, one out of 46 (2.2 per cent) Malay alleles and one out of two Indian alleles remained unknown. A 100 per cent success rate was achieved in studying the Kadazandusun community in this study. A strategy to identify beta-globin gene mutations in Malaysians with beta-thalassaemia is proposed based on this outcome.

    Item Type: Article
    Creators:
    1. Thong, M.K.
    2. Tan, J.(Department of Molecular Medicine, Faculty of Medicine Building, University of Malaya, 50603 Kuala Lumpur, MALAYSIA)
    3. Tan, K.L.
    4. Yap, S.F.
    Journal or Publication Title: Journal of Tropical Pediatrics
    Additional Information: Thong, MK Tan, JAMA Tan, KL Yap, SF --> Department of Molecular Medicine, Faculty of Medicine Building, University of Malaya, 50603 Kuala Lumpur, MALAYSIA
    Uncontrolled Keywords: Molecular Medicine
    Subjects: R Medicine
    Divisions: Faculty of Medicine
    Depositing User: Ms Haslinda Lahuddin
    Date Deposited: 04 Oct 2012 09:58
    Last Modified: 04 Oct 2012 09:58
    URI: http://eprints.um.edu.my/id/eprint/3717

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