{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T19:24:50Z","timestamp":1784057090062,"version":"3.55.0"},"reference-count":28,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,6,16]],"date-time":"2017-06-16T00:00:00Z","timestamp":1497571200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Malaysian Ministry of Higher Education Exploratory Research","award":["EGRS\/1\/2012\/STG03\/UKM\/02\/1"],"award-info":[{"award-number":["EGRS\/1\/2012\/STG03\/UKM\/02\/1"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>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\u2010sectional study was performed to determine the common mutations of <jats:italic>\u03b1<\/jats:italic>\u2010 and <jats:italic>\u03b2<\/jats:italic>\u2010thalassaemia 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 <jats:italic>\u03b1\u2010<\/jats:italic> and <jats:italic>\u03b2<\/jats:italic>\u2010globin 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 <jats:italic>\u03b1\u2010<\/jats:italic> and <jats:italic>\u03b2<\/jats:italic>\u2010globin gene mutations with 25 concomitant cases. The types of gene abnormalities detected for <jats:italic>\u03b1\u2010<\/jats:italic>thalassaemia were termination codon (T&gt;C) Hb CS (<jats:italic>\u03b1<jats:sup>CS<\/jats:sup>\u03b1<\/jats:italic>), Cd59 (G&gt;A) haemoglobin Adana (Hb Adana) (<jats:italic>\u03b1<jats:sup>Cd59<\/jats:sup>\u03b1<\/jats:italic>), initiation codon (ATG&gt;A\u2010G) (<jats:italic>\u03b1<jats:sup>IniCd<\/jats:sup>\u03b1<\/jats:italic>), two\u2010gene deletion (<jats:italic>\u2013<jats:sup>SEA<\/jats:sup><\/jats:italic>), and single\u2010gene 3.7\u2010kb deletion (<jats:italic>\u2010\u03b1<jats:sup>3.7<\/jats:sup><\/jats:italic>). For <jats:italic>\u03b2<\/jats:italic>\u2010thalassaemia, there were Cd26 (G&gt;A) Hb E (<jats:italic>\u03b2<jats:sup>E<\/jats:sup><\/jats:italic>), Cd19 (A&gt;G) Haemoglobin Malay (Hb Malay) (<jats:italic>\u03b2<jats:sup>Cd19<\/jats:sup><\/jats:italic>), and IVS 1\u20135 (G&gt;C) (<jats:italic>\u03b2<jats:sup>IVS 1\u20135<\/jats:sup><\/jats:italic>).<\/jats:p>","DOI":"10.1111\/ahg.12201","type":"journal-article","created":{"date-parts":[[2017,6,16]],"date-time":"2017-06-16T08:06:38Z","timestamp":1497600398000},"page":"205-212","source":"Crossref","is-referenced-by-count":14,"title":["Molecular Characterisation of <i>\u03b1<\/i>\u2010 and <i>\u03b2<\/i>\u2010Thalassaemia among Indigenous Senoi Orang Asli Communities in Peninsular Malaysia"],"prefix":"10.1111","volume":"81","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7922-1604","authenticated-orcid":false,"given":"Danny Xuan Rong","family":"Koh","sequence":"first","affiliation":[{"name":"School of Biosciences and Biotechnology, Faculty of Science and Technology Universiti Kebangsaan Malaysia  Selangor Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raja Zahratul Azma","family":"Raja Sabudin","sequence":"additional","affiliation":[{"name":"Department of Pathology Universiti Kebangsaan Malaysia Medical Centre  Kuala Lumpur Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malisa","family":"Mohd Yusoff","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Laboratory Services Universiti Kebangsaan Malaysia Medical Centre  Kuala Lumpur Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noor Hamidah","family":"Hussin","sequence":"additional","affiliation":[{"name":"Department of Pathology Universiti Kebangsaan Malaysia Medical Centre  Kuala Lumpur Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahimah","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Haematology Unit, Cancer Research Centre Institute for Medical Research  Kuala Lumpur Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ainoon","family":"Othman","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Health Sciences Universiti Sains Islam Malaysia  Kuala Lumpur Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Endom","family":"Ismail","sequence":"additional","affiliation":[{"name":"School of Biosciences and Biotechnology, Faculty of Science and Technology Universiti Kebangsaan Malaysia  Selangor Malaysia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,6,16]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"562","article-title":"Distribution of alpha thalassaemia in 16\u2010year\u2010old Malaysian students in Penang, Melaka and Sabah","volume":"67","author":"Ahmad R.","year":"2012","journal-title":"Med J Malaysia"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms140918599"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.3103\/S0095452715030020"},{"key":"e_1_2_7_5_1","first-page":"287","article-title":"Prevalence of iron deficiency anaemia and thalassaemia trait among undergraduate medical students","volume":"163","author":"Azma R. 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