{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:17:47Z","timestamp":1760059067702,"version":"build-2065373602"},"reference-count":33,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2025,5,20]],"date-time":"2025-05-20T00:00:00Z","timestamp":1747699200000},"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\/1Jld.146(22)"],"award-info":[{"award-number":["NIH.800-4\/4\/1Jld.146(22)"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Poly A (AATAAA &gt; AATA--) [HBA2:c.*93_*94delAA] is a rare \u03b1-variant reported in our population. It is caused by 2 bp deletion (--AA) in the \u03b12 poly A sequence, leading to a significant \u03b1\u2013thalassaemia phenotype. Background\/Objectives: This study describes the haematological parameters, phenotype, and genotype characteristics of AATA(--AA) in the Malaysian population. Methods: The study was carried out on 17 177 cases referred to the Institute for Medical Research, Malaysia, for further diagnosis of \u03b1-thalassaemia in a five-year period. Alpha-Gap and ARMS-PCR were performed to detect common \u03b1-thalassaemia, followed by HBA1 and HBA2 genes sequencing and multiplex ligation-dependent probe amplification (MLPA). Haematological parameters among various groups with the AATA(--AA) allele were presented in this study. Results: Thirty-two patients with AATA(--AA) displaying an \u03b1\u2013thalassaemia-like phenotype were analysed. They comprised 22 (68.75%) AATA(--AA) carriers, 2 (6.25%) compounds with 3.7 deletion, 2 (6.25%) compounds with --SEA deletion, 1 (3.12%) AATA(--AA) homozygote, and 3 (9.37%) compounds of Hb Adana, Hb CS, and Hb Pakse with co-inheritance Hb E, respectively. Most of the patients with AATA(--AA) compounds with the \u03b1-variant exhibited a significant phenotype between moderate to severe thalassaemia, especially cases with compound \u03b1\u2212AA\u03b1\/\u03b1Adana\u03b1. Conclusions: AATA(--AA) is a significant pathogenic variant that should be diagnosed to prevent significant thalassaemia phenotype or transfusion-dependent thalassaemia.<\/jats:p>","DOI":"10.3390\/diagnostics15101284","type":"journal-article","created":{"date-parts":[[2025,5,20]],"date-time":"2025-05-20T08:41:12Z","timestamp":1747730472000},"page":"1284","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The Clinical and Laboratory Profiles of a Deletional \u03b12-Globin Gene Polyadenylation Signal Sequence (AATAAA &gt; AATA--) [HBA2:c.*93_*94delAA]: The Malaysian Experience"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4202-2438","authenticated-orcid":false,"given":"Norafiza Mohd","family":"Yasin","sequence":"first","affiliation":[{"name":"Haematology Unit, Cancer Research Centre (CaRC), Institute for Medical Research (IMR), National Institute for Health (NIH), Shah Alam 40170, Selangor, Malaysia"},{"name":"Leiden University Medical Centre, 2333 ZA Leiden, The Netherlands"}],"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 Centre (CaRC), Institute for Medical Research (IMR), National Institute for Health (NIH), Shah Alam 40170, Selangor, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nur Aisyah","family":"Aziz","sequence":"additional","affiliation":[{"name":"Haematology Unit, Cancer Research Centre (CaRC), Institute for Medical Research (IMR), National Institute for Health (NIH), Shah Alam 40170, Selangor, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-8471-7712","authenticated-orcid":false,"given":"Faidatul Syazlin","family":"Abdul Hamid","sequence":"additional","affiliation":[{"name":"Haematology Unit, Cancer Research Centre (CaRC), Institute for Medical Research (IMR), National Institute for Health (NIH), Shah Alam 40170, Selangor, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ezalia","family":"Esa","sequence":"additional","affiliation":[{"name":"Haematology Unit, Cancer Research Centre (CaRC), Institute for Medical Research (IMR), National Institute for Health (NIH), Shah Alam 40170, Selangor, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0270-6034","authenticated-orcid":false,"given":"Ezzanie Suffya","family":"Zulkefli","sequence":"additional","affiliation":[{"name":"Haematology Unit, Cancer Research Centre (CaRC), Institute for Medical Research (IMR), National Institute for Health (NIH), Shah Alam 40170, Selangor, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rohana","family":"Ghazali","sequence":"additional","affiliation":[{"name":"Haematology Unit, Department of Pathology, Hospital Melaka, Melaka 75400, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Syirah Nazirah","family":"Tajuddin","sequence":"additional","affiliation":[{"name":"Haematology Unit, Department of Pathology, Hospital Tuanku Jaafar, Seremban 70300, Negeri Sembilan, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohd Nazif","family":"Darawi","sequence":"additional","affiliation":[{"name":"Department of Medical Diagnostics, Faculty of Health Sciences, University Selangor, Shah Alam 40000, Selangor, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuslina Mat","family":"Yusoff","sequence":"additional","affiliation":[{"name":"Haematology Unit, Cancer Research Centre (CaRC), Institute for Medical Research (IMR), National Institute for Health (NIH), Shah Alam 40170, Selangor, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cornelis L.","family":"Harteveld","sequence":"additional","affiliation":[{"name":"Leiden University Medical Centre, 2333 ZA Leiden, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,5,20]]},"reference":[{"doi-asserted-by":"crossref","unstructured":"Harteveld, C.L., and Higgs, D.R. 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