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      Molecular Characterisation of α- and β-Thalassaemia among Indigenous Senoi Orang Asli Communities in Peninsular Malaysia.

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          Abstract

          Thalassaemia is a public health problem in Malaysia, with each ethnic group having their own common mutations. However, there is a lack on data on the prevalence and common mutations among the indigenous people. This cross-sectional study was performed to determine the common mutations of α- and β-thalassaemia among the subethnic groups of Senoi, the largest Orang Asli group in Peninsular Malaysia. Blood samples collected from six Senoi subethnic groups were analysed for full blood count and haemoglobin analysis (HbAn). Samples with abnormal findings were then screened for α- and β-globin gene mutations. Out of the 752 samples collected, 255 showed abnormal HbAn results, and 122 cases showing abnormal red cell indices with normal HbAn findings were subjected to molecular screening. DNA analysis revealed a mixture of α- and β-globin gene mutations with 25 concomitant cases. The types of gene abnormalities detected for α-thalassaemia were termination codon (T>C) Hb CS (αCS α), Cd59 (G>A) haemoglobin Adana (Hb Adana) (αCd59 α), initiation codon (ATG>A-G) (αIniCd α), two-gene deletion (-SEA ), and single-gene 3.7-kb deletion (-α3.7 ). For β-thalassaemia, there were Cd26 (G>A) Hb E (βE ), Cd19 (A>G) Haemoglobin Malay (Hb Malay) (βCd19 ), and IVS 1-5 (G>C) (βIVS 1-5 ).

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          Author and article information

          Journal
          Ann. Hum. Genet.
          Annals of human genetics
          Wiley
          1469-1809
          0003-4800
          Sep 2017
          : 81
          : 5
          Affiliations
          [1 ] School of Biosciences and Biotechnology, Faculty of Science and Technology, Universiti Kebangsaan Malaysia, Selangor, Malaysia.
          [2 ] Department of Pathology, Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur, Malaysia.
          [3 ] Department of Diagnostic Laboratory Services, Universiti Kebangsaan Malaysia Medical Centre, Kuala Lumpur, Malaysia.
          [4 ] Haematology Unit, Cancer Research Centre, Institute for Medical Research, Kuala Lumpur, Malaysia.
          [5 ] Faculty of Medicine and Health Sciences, Universiti Sains Islam Malaysia, Kuala Lumpur, Malaysia.
          Article
          10.1111/ahg.12201
          28620953
          caf73983-d3d7-4382-812d-524cba3e8bdb

          mutation spectrum,indigenous people,Thalassaemia,Senoi Orang Asli

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