{
  "abstract": "Thalassemia is a significant health burden in Malaysia. This report presents a retrospective analysis of nationwide diagnostic data compiled over seven years, investigating β-thalassemia spectrum in 731 referred family trios. Genomic analysis used gap-PCR, ARMS-PCR, MLPA, Sanger sequencing, and exome sequencing to validate rare CNVs. We identified 468 at-risk couples, with 440 children inherited biallelic mutations. Heterogeneous mutations were recorded among Peninsular Malaysian children with 43 β-, four δ-, 11 α-thalassemia and variant types, and five α-globin duplications. Among children in Sabah, 15 β-, one δ-, and two α-thalassemia and variants, and one α-globin duplications were recorded. Sarawak exhibited lowest heterogeneity. In Peninsular Malaysia, β E was most prevalent among Malays, followed by IVS 1–5 (G > C), β Malay , and IVS 1–1 (G > T). IVS 2–654 (C > T) and − 28 (A > G) were observed only among Chinese individuals in this referred cohort, while Cd 41/42 -TTCT was common to both ethnicities. β E /β-thalassemia was the most frequent disease with 188 cases. In Sabah, homozygous β Filipino was the most frequent genotype across multiple ethnicities, with 35.2% (31/88) of these cases exhibiting concomitant -α 3.7 . Overall, 15.2% (111/731) of children with HBB mutations had concomitant α-thalassemia, and 10 had α-triplications. These findings highlight the necessity of HBA genotyping for accurate genetic counseling. We present two novel mutation, codon 122 (TTC > TGC) mutation (HBB:c.368 T > G; p.Phe123Cys) named β Tanah Merah , and α-globin cluster duplication, ααα ⁹¹ (NC_000016.10:g.87820_179080dup). This comprehensive dataset is essential for improving molecular diagnostics and optimizing DNA analysis workflows in highly heterogeneous populations.",
  "abstract_shown": true,
  "affiliations": [],
  "article_type": null,
  "arxiv": null,
  "author_total": 25,
  "authors": [
    {
      "name": "Syahzuwan Hassan"
    },
    {
      "name": "Zefarina Zulkafli"
    },
    {
      "name": "Yuslina Mat Yusoff"
    },
    {
      "name": "Rahimah Ahmad"
    },
    {
      "name": "Zubaidah Zakaria"
    },
    {
      "name": "Norafiza Mohd Yasin"
    },
    {
      "name": "Faidatul Syazlin Abdul Hamid"
    },
    {
      "name": "Nur Aisyah Aziz"
    },
    {
      "name": "Ermi Neiza Mohd Sahid"
    },
    {
      "name": "Azian Naila Md Nor"
    },
    {
      "name": "Suguna Somasundram"
    },
    {
      "name": "Siti Nurrazan Zulkifli"
    },
    {
      "name": "Nurul Hidayah Musa"
    },
    {
      "name": "Gowrisankari Navaretnam"
    },
    {
      "name": "Ulfatul Khusna Samuri"
    },
    {
      "name": "Sharifah Sarah Syed Mohamad Alwi"
    },
    {
      "name": "Ezzanie Suffya Zulkefli"
    },
    {
      "name": "Syahira Lazira Omar"
    },
    {
      "name": "Velintina Matnih"
    },
    {
      "name": "Mohd Khairul Nizam Mohd Khalid"
    },
    {
      "name": "Muhammad Farid Johan"
    },
    {
      "name": "Rosnah Bahar"
    },
    {
      "name": "Wan Zaidah Abdullah"
    },
    {
      "name": "Ezzeddin Kamil Mohamed Hashim"
    },
    {
      "name": "Ezalia Esa"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/4r16nppwzadg0.bib",
  "cited_by": 0,
  "doi": "10.1038/s41598-026-73362-5",
  "fulltext_url": null,
  "id": "4r16nppwzadg0",
  "issns": [
    "2045-2322"
  ],
  "landing_url": "https://www.nature.com/articles/s41598-026-73362-5",
  "language": null,
  "licence": "CC-BY-4.0",
  "licence_label": "CC BY 4.0",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2716|Hemoglobinopathies and Related Disorders"
    ]
  ],
  "openalex": "W7219819858",
  "pdf_url": "https://www.nature.com/articles/s41598-026-73362-5_reference.pdf",
  "pmcid": null,
  "pmid": null,
  "published": "2026-10-04",
  "publisher": "Springer Science and Business Media LLC",
  "ris": "https://research.draconitic.com/paper/4r16nppwzadg0.ris",
  "sources": [
    {
      "first_seen": "2026-10-30T12:17:22Z",
      "native_id": "10.1038/s41598-026-73362-5",
      "source": "crossref",
      "url": "https://www.nature.com/articles/s41598-026-73362-5"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2716|Hemoglobinopathies and Related Disorders",
      "subfield": "human-genetics"
    }
  ],
  "title": "A nationwide molecular characterization of β-thalassemia and variants among a referred trio families in Malaysia",
  "title_text": "A nationwide molecular characterization of β-thalassemia and variants among a referred trio families in Malaysia",
  "type": "peer-reviewed",
  "updated_at": "2026-10-30T12:17:22Z",
  "url": "https://research.draconitic.com/paper/4r16nppwzadg0",
  "venue": "Scientific Reports",
  "versions": []
}