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Molecular Characterisation of alpha- and beta-Thalassaemia among Indigenous Senoi Orang Asli Communities in Peninsular Malaysia

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dc.contributor.authorKoh, DXRen_US
dc.contributor.authorSabudin, RZARen_US
dc.contributor.authorYusoff, MMen_US
dc.contributor.authorHussin, NHen_US
dc.contributor.authorAhmad, Ren_US
dc.contributor.authorOthman, Aen_US
dc.contributor.authorIsmail, Een_US
dc.date.accessioned2024-05-29T02:54:01Z
dc.date.available2024-05-29T02:54:01Z
dc.date.issued2017
dc.description.abstractThalassaemia 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 - and -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 - and -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 - and -globin gene mutations with 25 concomitant cases. The types of gene abnormalities detected for -thalassaemia were termination codon (T>C) Hb CS ((CS)), Cd59 (G>A) haemoglobin Adana (Hb Adana) ((Cd59)), initiation codon (ATG>A-G) ((IniCd)), two-gene deletion (-(SEA)), and single-gene 3.7-kb deletion (-(3.7)). For -thalassaemia, there were Cd26 (G>A) Hb E ((E)), Cd19 (A>G) Haemoglobin Malay (Hb Malay) ((Cd19)), and IVS 1-5 (G>C) ((IVS 1-5)).
dc.identifier.doi10.1111/ahg.12201
dc.identifier.epage212
dc.identifier.isbn1469-1809
dc.identifier.issn0003-4800
dc.identifier.issue5
dc.identifier.scopusWOS:000407508400005
dc.identifier.spage205
dc.identifier.urihttps://oarep.usim.edu.my/handle/123456789/11438
dc.identifier.volume81
dc.languageEnglish
dc.language.isoen_US
dc.publisherWileyen_US
dc.relation.ispartofAnnals Of Human Genetics
dc.sourceWeb Of Science (ISI)
dc.subjectThalassaemiaen_US
dc.subjectindigenous peopleen_US
dc.subjectSenoi Orang Aslien_US
dc.subjectmutation spectrumen_US
dc.titleMolecular Characterisation of alpha- and beta-Thalassaemia among Indigenous Senoi Orang Asli Communities in Peninsular Malaysia
dc.typeArticleen_US
dspace.entity.typePublication

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