{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T19:55:17Z","timestamp":1781898917834,"version":"3.54.5"},"reference-count":10,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T00:00:00Z","timestamp":1717200000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,6,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Haemoglobin (Hb) Malay is variant haemoglobin with a \u03b2\n                    <jats:sup>++<\/jats:sup>\n                    thalassemia phenotype. The prevalence of Hb Malay in the Malaysian population was 5.5%. We describe a 58-year-old male who presented with symptomatic anaemia to the Hospital Universiti Sains Malaysia. Further history revealed that the patient had anaemia since the age of 28, and on regular follow-up at other hospital. Physical examination revealed pallor, jaundice and hepatosplenomegaly. The full blood count and peripheral blood smear showed hypochromic microcytic anaemia with anisopoikilocytosis, and many target cells. High-performance liquid chromatography results showed a \u03b2 thalassemia trait. However, the diagnosis does not alight with the patient\u2019s condition. Bone marrow aspirate was completed and showed reactive changes and erythroid hyperplasia. A molecular test was then performed for \u03b2 globin gene mutation detection using Multiplex Amplification Refractory Mutation System (M-ARMS) PCR method. This revealed the result as homozygous codon 19 mutation or Hb Malay. Therefore, in this case report we would like to highlight the laboratory approaches, the challenges faced by the usual haematological investigations and the importance role of molecular testing in the diagnosis of severe anaemia.\n                  <\/jats:p>","DOI":"10.2478\/bjmg-2024-0001","type":"journal-article","created":{"date-parts":[[2024,9,7]],"date-time":"2024-09-07T02:30:58Z","timestamp":1725676258000},"page":"65-67","source":"Crossref","is-referenced-by-count":1,"title":["The Importance of Molecular Biological Analysis for the Laboratory Diagnostic of Homozygous Haemoglobin Malay"],"prefix":"10.2478","volume":"27","author":[{"given":"R","family":"Bahar","sequence":"first","affiliation":[{"name":"School of Medical Sciences , Universiti Sains Malaysia , Kubang Kerian , Kelantan ."},{"name":"Hospital USM , Universiti Sains Malaysia , Kubang Kerian , Kelantan ."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z","family":"Zulkafli","sequence":"additional","affiliation":[{"name":"School of Medical Sciences , Universiti Sains Malaysia , Kubang Kerian , Kelantan ."},{"name":"Hospital USM , Universiti Sains Malaysia , Kubang Kerian , Kelantan ."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"RH","family":"Zulkeflee","sequence":"additional","affiliation":[{"name":"School of Medical Sciences , Universiti Sains Malaysia , Kubang Kerian , Kelantan ."},{"name":"Hospital USM , Universiti Sains Malaysia , Kubang Kerian , Kelantan ."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"MN","family":"Hassan","sequence":"additional","affiliation":[{"name":"School of Medical Sciences , Universiti Sains Malaysia , Kubang Kerian , Kelantan ."},{"name":"Hospital USM , Universiti Sains Malaysia , Kubang Kerian , Kelantan ."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S Wan Ab","family":"Rahman Wan","sequence":"additional","affiliation":[{"name":"Hospital USM , Universiti Sains Malaysia , Kubang Kerian , Kelantan ."},{"name":"School of Dental Sciences , Universiti Sains Malaysia , Kubang Kerian , Kelantan ."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"NH M","family":"Noor","sequence":"additional","affiliation":[{"name":"School of Medical Sciences , Universiti Sains Malaysia , Kubang Kerian , Kelantan ."},{"name":"Hospital USM , Universiti Sains Malaysia , Kubang Kerian , Kelantan ."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Ramli","sequence":"additional","affiliation":[{"name":"School of Medical Sciences , Universiti Sains Malaysia , Kubang Kerian , Kelantan ."},{"name":"Hospital USM , Universiti Sains Malaysia , Kubang Kerian , Kelantan ."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Hussin","sequence":"additional","affiliation":[{"name":"School of Medical Sciences , Universiti Sains Malaysia , Kubang Kerian , Kelantan ."},{"name":"Hospital USM , Universiti Sains Malaysia , Kubang Kerian , Kelantan ."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"AD","family":"Abdullah","sequence":"additional","affiliation":[{"name":"School of Medical Sciences , Universiti Sains Malaysia , Kubang Kerian , Kelantan ."},{"name":"Hospital USM , Universiti Sains Malaysia , Kubang Kerian , Kelantan ."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Iberahim","sequence":"additional","affiliation":[{"name":"School of Medical Sciences , Universiti Sains Malaysia , Kubang Kerian , Kelantan ."},{"name":"Hospital USM , Universiti Sains Malaysia , Kubang Kerian , Kelantan ."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Abdullah","sequence":"additional","affiliation":[{"name":"School of Medical Sciences , Universiti Sains Malaysia , Kubang Kerian , Kelantan ."},{"name":"Hospital USM , Universiti Sains Malaysia , Kubang Kerian , Kelantan ."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S M","family":"Yusoff","sequence":"additional","affiliation":[{"name":"School of Medical Sciences , Universiti Sains Malaysia , Kubang Kerian , Kelantan ."},{"name":"Hospital USM , Universiti Sains Malaysia , Kubang Kerian , Kelantan ."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2024,9,6]]},"reference":[{"key":"2026061919471743074_j_bjmg-2024-0001_ref_001","doi-asserted-by":"crossref","unstructured":"Thein SL. The molecular basis of \u03b2-thalassemia. Cold Spring Harb Perspect Med. 2013;3(5):1\u201324.","DOI":"10.1101\/cshperspect.a011700"},{"key":"2026061919471743074_j_bjmg-2024-0001_ref_002","doi-asserted-by":"crossref","unstructured":"Traivaree C, Boonyawat B, Monsareenusorn C. Molecular analysis of beta-globin gene mutations among Thai beta-thalassemia children: results from a single center study. Appl Clin Genet. 2014;253.","DOI":"10.2147\/TACG.S73058"},{"key":"2026061919471743074_j_bjmg-2024-0001_ref_003","doi-asserted-by":"crossref","unstructured":"Lee YK, Kim HJ, Lee K, Park SH, Song SH, Seong MW, et al. Recent progress in laboratory diagnosis of thalassemia and hemoglobinopathy: A study by the Korean Red Blood Cell Disorder Working Party of the Korean Society of Hematology. Blood Res. 2019;54(1):17\u201322.","DOI":"10.5045\/br.2019.54.1.17"},{"key":"2026061919471743074_j_bjmg-2024-0001_ref_004","doi-asserted-by":"crossref","unstructured":"Brancaleoni V, Di Pierro E, Motta I, Cappellini MD. Laboratory diagnosis of thalassemia. Int J Lab Hematol [Internet]. 2016 May 1 [cited 2022 Feb 20];38 Suppl 1:32\u201340. Available from: https:\/\/pubmed.ncbi.nlm.nih.gov\/27183541\/","DOI":"10.1111\/ijlh.12527"},{"key":"2026061919471743074_j_bjmg-2024-0001_ref_005","unstructured":"Amran HS, Sarijan N, Sathar J, Md Noor S. Case series of homozygous and compound heterozygosity of Hb Malay, the diagnostic features and trans-fusion requirements. J Biomed Clin Sci [Internet]. 2017;3(2):10\u20137. Available from: http:\/\/apps.amdi.usm.my\/journal\/index.php\/jbcs\/article\/view\/180"},{"key":"2026061919471743074_j_bjmg-2024-0001_ref_006","unstructured":"George E, Huisman THJ, Yang KG, Kutlari F, Wilson JB, Kutlar A, et al. First observation of haemoglobin Malay. Med J Malaysia. 1989;44(3):259\u201362."},{"key":"2026061919471743074_j_bjmg-2024-0001_ref_007","unstructured":"Yusoff YM, Hamid FS, Esa E, Aziz NA, Hassan S, Anoar SZ, et al. Molecular and Haematological Characterisation of Hb Malay in Malaysian Population. Asian J Med Biomed [Internet]. 2018 [cited 2022 Feb 20]; Available from: https:\/\/www.semanticscholar.org\/paper\/Molecular-and-Haematological-Characterisation-of-Hb-Yusoff-Hamid\/5fd503a15bf5e5a039200a868e47b1a2c8b09fdf"},{"key":"2026061919471743074_j_bjmg-2024-0001_ref_008","doi-asserted-by":"crossref","unstructured":"Yamsri S, Singha K, Prajantasen T, Taweenan W, Fucharoen G, Sanchaisuriya K, Fucharoen S. A large cohort of \u03b2(+)-thalassemia in Thailand: molecular, hematological and diagnostic considerations. Blood Cells Mol Dis. 2015 Feb;54(2):164\u20139. doi:","DOI":"10.1016\/j.bcmd.2014.11.008"},{"key":"2026061919471743074_j_bjmg-2024-0001_ref_009","doi-asserted-by":"crossref","unstructured":"Sharma S, Sehgal S, Das R, Gulati S. Phenotypic heterogeneity of delta-beta thalassemia. Indian J Pathol Microbiol [Internet]. 2019 Jan 1 [cited 2022 Feb 20];62(1):185\u20136. Available from: https:\/\/pubmed.ncbi.nlm.nih.gov\/30706898\/","DOI":"10.4103\/IJPM.IJPM_314_17"},{"key":"2026061919471743074_j_bjmg-2024-0001_ref_010","unstructured":"Karim MUA, Moinuddin, Babar SU. Cap +1 mutation; an unsuspected cause of beta thalassaemia transmission in Pakistan. Turkish J Hematol. 2009;26(4):167\u201370."}],"container-title":["Balkan Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/reference-global.com\/pdf\/10.2478\/bjmg-2024-0001","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T19:47:28Z","timestamp":1781898448000},"score":1,"resource":{"primary":{"URL":"https:\/\/reference-global.com\/article\/10.2478\/bjmg-2024-0001"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,1]]},"references-count":10,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,9,6]]},"published-print":{"date-parts":[[2024,6,1]]}},"alternative-id":["10.2478\/bjmg-2024-0001"],"URL":"https:\/\/doi.org\/10.2478\/bjmg-2024-0001","relation":{},"ISSN":["2199-5761"],"issn-type":[{"value":"2199-5761","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,1]]}}}