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

Molecular Characterisation of α‐ and β‐Thalassaemia among Indigenous Senoi Orang Asli Communities... 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 (αCSα), Cd59 (G>A) haemoglobin Adana (Hb Adana) (αCd59α), initiation codon (ATG>A‐G) (αIniCdα), 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). http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Annals of Human Genetics Wiley

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

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References (33)

Publisher
Wiley
Copyright
Copyright © 2017 John Wiley & Sons Ltd/University College London
ISSN
0003-4800
eISSN
1469-1809
DOI
10.1111/ahg.12201
pmid
28620953
Publisher site
See Article on Publisher Site

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 (αCSα), Cd59 (G>A) haemoglobin Adana (Hb Adana) (αCd59α), initiation codon (ATG>A‐G) (αIniCdα), 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).

Journal

Annals of Human GeneticsWiley

Published: Sep 1, 2017

Keywords: ; ; ;

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