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

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dc.Chemicals/CAShemoglobin, 9008-02-0; alpha-Globins; beta-Globins
dc.citedby3
dc.contributor.affiliationsFaculty of Medicine and Health Sciences
dc.contributor.affiliationsUniversiti Kebangsaan Malaysia (UKM)
dc.contributor.affiliationsUniversiti Kebangsaan Malaysia (UKM) Medical Centre
dc.contributor.affiliationsInstitute for Medical Research
dc.contributor.affiliationsUniversiti Sains Islam Malaysia (USIM)
dc.contributor.authorKoh D.X.R.en_US
dc.contributor.authorRaja Sabudin R.Z.A.en_US
dc.contributor.authorMohd Yusoff M.en_US
dc.contributor.authorHussin N.H.en_US
dc.contributor.authorAhmad R.en_US
dc.contributor.authorOthman A.en_US
dc.contributor.authorIsmail E.en_US
dc.date.accessioned2024-05-28T08:40:29Z
dc.date.available2024-05-28T08:40:29Z
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 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).en_US
dc.description.natureFinalen_US
dc.identifier.CODENANHGA
dc.identifier.doi10.1111/ahg.12201
dc.identifier.epage212
dc.identifier.issn34800
dc.identifier.issue5
dc.identifier.pmid28620953
dc.identifier.scopus2-s2.0-85020847554
dc.identifier.spage205
dc.identifier.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85020847554&doi=10.1111%2fahg.12201&partnerID=40&md5=83feabf6cb664b1463e6a400f2df7a9a
dc.identifier.urihttps://oarep.usim.edu.my/handle/123456789/9269
dc.identifier.volume81
dc.languageEnglish
dc.language.isoen_USen_US
dc.publisherBlackwell Publishing Ltden_US
dc.relation.ispartofAnnals of Human Genetics
dc.sourceScopus
dc.subjectindigenous peopleen_US
dc.subjectmutation spectrumen_US
dc.subjectSenoi Orang Aslien_US
dc.subjectThalassaemiaen_US
dc.titleMolecular Characterisation of α- and β-Thalassaemia among Indigenous Senoi Orang Asli Communities in Peninsular Malaysiaen_US
dc.title.alternativeAnn. Hum. Genet.en_US
dc.typeArticleen_US
dspace.entity.typePublication

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