{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T12:14:31Z","timestamp":1772280871654,"version":"3.50.1"},"reference-count":34,"publisher":"MDPI AG","issue":"20","license":[{"start":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T00:00:00Z","timestamp":1698019200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministry of Health Research Grant","award":["[NIH.800-4\/4\/1 Jld. 120 (3)]"],"award-info":[{"award-number":["[NIH.800-4\/4\/1 Jld. 120 (3)]"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Malaysia is a multicultural and multiethnic country comprising numerous ethnic groups. From the total population of 32.7 million, Malays form the bulk of the Bumiputera in Malaysia comprise about 69.9%, followed by Chinese 22.8%, Indian 6.6%, and others 0.7%. The heterogeneous population and increasing numbers of non-citizens in this country affects the heterogeneity of genetic diseases, diversity, and heterogeneity of thalassaemia mutations. Alpha (\u03b1)-thalassaemia is an inherited haemoglobin disorder characterized by hypochromic microcytic anaemia caused by a quantitative reduction in the \u03b1-globin chain. A majority of the \u03b1-thalassaemia are caused by deletions in the \u03b1-globin gene cluster. Among Malays, the most common deletional alpha thalassaemia is \u2212\u03b13.7 deletion followed by \u2212\u2212SEA deletion. We described the molecular characterization of a new \u2212\u2212GB deletion in our population, involving both alpha genes in cis. Interestingly, we found that this mutation is unique among Malay ethnicities. It is important to diagnose this deletion because of the 25% risk of Hb Bart\u2019s with hydrops fetalis in the offspring when in combination with another \u03b10- thalassaemia allele. MLPA is a suitable method to detect unknown and uncommon deletions and to characterize those cases which remain unresolved after a standard diagnostic approach.<\/jats:p>","DOI":"10.3390\/diagnostics13203286","type":"journal-article","created":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T10:32:24Z","timestamp":1698057144000},"page":"3286","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Characterization of New Alpha Zero (\u03b10) Thalassaemia Deletion (\u2212\u2212GB) among Malays in Malaysian Population"],"prefix":"10.3390","volume":"13","author":[{"given":"Norafiza Mohd","family":"Yasin","sequence":"first","affiliation":[{"name":"Haematology Unit, Cancer Research Center, Institute for Medical Research, National Institutes of Health, Ministry of Health, Shah Alam 40170, Selangor, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faidatul Syazlin","family":"Abdul Hamid","sequence":"additional","affiliation":[{"name":"Haematology Unit, Cancer Research Center, Institute for Medical Research, National Institutes of Health, Ministry of Health, Shah Alam 40170, Selangor, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9886-504X","authenticated-orcid":false,"given":"Syahzuwan","family":"Hassan","sequence":"additional","affiliation":[{"name":"Haematology Unit, Cancer Research Center, Institute for Medical Research, National Institutes of Health, Ministry of Health, Shah Alam 40170, Selangor, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuslina","family":"Mat Yusoff","sequence":"additional","affiliation":[{"name":"Haematology Unit, Cancer Research Center, Institute for Medical Research, National Institutes of Health, Ministry of Health, Shah Alam 40170, Selangor, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ermi Neiza","family":"Mohd Sahid","sequence":"additional","affiliation":[{"name":"Haematology Unit, Cancer Research Center, Institute for Medical Research, National Institutes of Health, Ministry of Health, Shah Alam 40170, Selangor, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ezalia","family":"Esa","sequence":"additional","affiliation":[{"name":"Haematology Unit, Cancer Research Center, Institute for Medical Research, National Institutes of Health, Ministry of Health, Shah Alam 40170, Selangor, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,10,23]]},"reference":[{"key":"ref_1","first-page":"565","article-title":"Distribution of alpha thalassaemia in 16 year old Malaysian students in Penang, Melaka and Sabah","volume":"67","author":"Ahmad","year":"2012","journal-title":"Med. J. Malays."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"135","DOI":"10.3109\/03630261003677213","article-title":"Forecasting hemoglobinopathy burden through neonatal screening in Omani neonates","volume":"34","author":"Alkindi","year":"2010","journal-title":"Hemoglobin"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1111\/j.1447-0756.2005.00333.x","article-title":"Heterogeneity in \u03b1-thalassemia interactions in Malays, Chinese and Indians in Malaysia","volume":"31","author":"Wee","year":"2005","journal-title":"J. Obstet. Gynaecol. Res."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"462969","DOI":"10.5402\/2012\/462969","article-title":"Detection of Common Deletional Alpha-Thalassemia Spectrum by Molecular Technique in Kelantan, Northeastern Malaysia","volume":"2012","author":"Rosnah","year":"2012","journal-title":"ISRN Hematol."},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Zulkeflee, R.H., Bahar, R., Abdullah, M., Radzi, M.A.R.M., Fauzi, A.M., and Hassan, R. (2023). Application of Targeted Next-Generation Sequencing for the Investigation of Thalassemia in a Developing Country: A Single Center Experience. Diagnostics, 13.","DOI":"10.3390\/diagnostics13081379"},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Vijian, D., Ab Rahman, W.S.W., Ponnuraj, K.T., Zulkafli, Z., Bahar, R., Yasin, N., Hassan, S., and Esa, E. (2023). Gene Mutation Spectrum among Alpha-Thalassaemia Patients in Northeast Peninsular Malaysia. Diagnostics, 13.","DOI":"10.3390\/diagnostics13050894"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1111\/ejh.13512","article-title":"Changing patterns in the epidemiology of \u03b2-thalassemia","volume":"105","author":"Kattamis","year":"2020","journal-title":"Eur. J. Haematol."},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Goh, L.P.W., Chong, E.T.J., and Lee, P.-C. (2020). Prevalence of alpha(\u03b1)-thalassemia in Southeast Asia (2010\u20132020): A meta-analysis involving 83,674 subjects. Int. J. Environ. Res. Public Health, 17.","DOI":"10.3390\/ijerph17207354"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"9850","DOI":"10.1038\/s41598-023-36840-8","article-title":"Revisiting and updating molecular epidemiology of \u03b1-thalassemia mutations in Thailand using MLPA and new multiplex gap-PCR for nine \u03b1-thalassemia deletion","volume":"13","author":"Jomoui","year":"2023","journal-title":"Sci. Rep."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"18599","DOI":"10.3390\/ijms140918599","article-title":"Distribution of alpha thalassaemia gene variants in diverse ethnic populations in Malaysia: Data from the institute for medical Research","volume":"14","author":"Ahmad","year":"2013","journal-title":"Int. J. Mol. Sci."},{"key":"ref_11","unstructured":"Adam, M.P., Everman, D.B., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Gripp, K.W., and Amemiya, A. (2022, December 01). Alpha-Thalassemia, GeneReviews\u00ae, Available online: https:\/\/www.ncbi.nlm.nih.gov\/books."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1081\/HEM-100105224","article-title":"A novel splice acceptor site mutation of the a 2-globin gene causing a-thalassemia","volume":"25","author":"Noguera","year":"2001","journal-title":"Hemoglobin"},{"key":"ref_13","unstructured":"Higgs, D.R. (2009). Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management, Cambridge University Press. [2nd ed.]."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1908","DOI":"10.1056\/NEJMra1404415","article-title":"The \u03b1-Thalassemias","volume":"371","author":"Piel","year":"2014","journal-title":"N. Engl. J. Med."},{"key":"ref_15","first-page":"571","article-title":"Disorders of Haemoglobin: Genetics, Pathophysiology and, Clinnical Management","volume":"15","author":"Steinberg","year":"2001","journal-title":"J. Sci. Explor."},{"key":"ref_16","first-page":"522","article-title":"Thalassaemia screening among students in a secondary school in Ampang, Malaysia","volume":"66","author":"Jameela","year":"2011","journal-title":"Med. J. Malays."},{"key":"ref_17","first-page":"27","article-title":"Molecular characteristic of alpha thalassaemia among patients diagnosed in UKM Medical Centre","volume":"36","author":"Azma","year":"2014","journal-title":"Malays. J. Pathol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1093\/tropej\/fmi052","article-title":"Characterisation of \u03b2-globin gene mutations in Malaysian children: A strategy for the control of \u03b2-thalassaemia in a developing country","volume":"51","author":"Thong","year":"2005","journal-title":"J. Trop. Pediatr."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1080\/03630269.2022.2057326","article-title":"Syed-Hassan Thalassemia in Malaysia","volume":"46","year":"2022","journal-title":"Hemoglobin"},{"key":"ref_20","first-page":"1","article-title":"Haematological and Molecular Characteristics of Hb Singapore [HBA2: C. 425G > C] Unique among the Malays from Kelantan, Malaysia","volume":"3","author":"Yasin","year":"2023","journal-title":"Malays. J. Hum. Genet."},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Esa, E., Mohamad, A.S., Hamzah, R., Hamid, F.S.A., Aziz, N.A., Sevaratnam, V., Sathar, J., Chen, G., and Yasin, N.M. (2023). Clinical and haematological characteristics of 38 individuals with Hb G-Makassar in Malaysia. eJHaem, 1\u20139.","DOI":"10.1002\/jha2.750"},{"key":"ref_22","unstructured":"Mohd Ibrahim, H. (2019). Malaysian Thalassaemia Registry Report 2018."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"e037974","DOI":"10.1136\/bmjopen-2020-037974","article-title":"Observational study on the current status of thalassaemia in Malaysia: A report from the Malaysian Thalassaemia Registry","volume":"10","author":"Ibrahim","year":"2020","journal-title":"BMJ Open"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1016\/j.bcmd.2009.12.011","article-title":"Thalassemia in Western Australia: 11 novel deletions characterized by Multiplex Ligation-dependent Probe Amplification","volume":"44","author":"Phylipsen","year":"2010","journal-title":"Blood Cells Mol. Dis."},{"key":"ref_25","first-page":"250","article-title":"Low A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for a-thalassemia","volume":"98","author":"Quah","year":"2001","journal-title":"Blood J. Am. Soc. Hematol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1046\/j.1365-2141.2000.01870.x","article-title":"Rapid detection of \u03b1-thalassaemia deletions and \u03b1-globin gene triplication by multiplex polymerase chain reactions","volume":"108","author":"Liu","year":"2000","journal-title":"Br. J. Haematol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1182\/blood.V95.1.360","article-title":"Single-tube multiplex-PCR screen for common deletional determinants of \u03b1-thalassemia","volume":"95","author":"Chong","year":"2000","journal-title":"Blood"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1089\/109065701753617471","article-title":"Detection of severe nondeletional \u03b1-thalassemia mutations using a single-tube multiplex ARMS assay","volume":"5","author":"Eng","year":"2001","journal-title":"Genet. Test."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.bcmd.2010.05.004","article-title":"A new \u03b1 0-thalassemia deletion found in a Dutch family (-AW)","volume":"45","author":"Phylipsen","year":"2010","journal-title":"Blood Cells Mol. Dis."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.bcmd.2012.05.006","article-title":"Clinical and molecular characterization of a rare 2.4kb deletion causing \u03b1+ thalassemia in a Chinese family","volume":"49","author":"Lin","year":"2012","journal-title":"Blood Cells Mol. Dis."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1080\/03630269.2020.1717140","article-title":"Identification of a Novel \u03b1-Thalassemia Deletion: \u2013(\u03b1) 4.9 from a Current Multiplex Gap-Polymerase Chain Reaction","volume":"43","author":"Hamid","year":"2019","journal-title":"Hemoglobin"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1136\/jmg.2005.033597","article-title":"Nine unknown rearrangements in 16p13.3 and 11p15.4 causing \u03b1- and \u03b1-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification","volume":"42","author":"Harteveld","year":"2005","journal-title":"J. Med. Genet."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1628","DOI":"10.1111\/ijlh.13651","article-title":"Breakpoint characterization of a rare alpha zero- thalassemia deletion using targeted locus amplification on genomic DNA","volume":"43","author":"Hottentot","year":"2021","journal-title":"Int. J. Lab. Hematol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1590\/1678-4685-gmb-2016-0330","article-title":"Rare \u03b10-thalassemia deletions detected by MLPA in five unrelated Brazilian patients","volume":"40","author":"Mota","year":"2017","journal-title":"Genet. Mol. Biol."}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/13\/20\/3286\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T21:10:25Z","timestamp":1760130625000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/13\/20\/3286"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,23]]},"references-count":34,"journal-issue":{"issue":"20","published-online":{"date-parts":[[2023,10]]}},"alternative-id":["diagnostics13203286"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics13203286","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,10,23]]}}}