{
  "abstract": "Background\n\nβ-thalassemia intermedia (β-TI), now more commonly classified within the spectrum of non-transfusion-dependent thalassemia (NTDT), is a clinically heterogeneous disorder in which disease severity is determined not only by β-globin mutations but also by co-inherited genetic modifiers that vary across populations. These include α-globin gene alterations, fetal haemoglobin (HbF)-inducing polymorphisms, and other regulatory loci that influence globin chain balance.Methods\n\nA systematic review was conducted in accordance with PRISMA 2020 guidelines. PubMed was searched from inception to May 2026, supplemented by citation tracking and manual screening. Studies reporting genotype-phenotype correlations in β-TI were included. Data were synthesized qualitatively by geographic region.Results\n\nTwenty-one studies were included. The available evidence suggests Mediterranean populations are primarily influenced by mild β-globin mutations. In Middle Eastern populations, HbF-inducing polymorphisms, particularly the XmnI variant, played a prominent role, often mitigating severe genotypes. Among the included studies, Asian populations exhibited the greatest molecular heterogeneity, with α-globin gene dosage alterations, including triplication, contributing substantially to disease expression.Conclusion\n\nThe available evidence suggests regional differences in the contribution of genetic modifiers to the β-thalassemia intermedia phenotype. Recognition of these patterns may improve understanding of genotype-phenotype variability and may help inform future approaches to diagnosis, prognostication, and individualized therapeutic strategies.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Biochemistry and Clinical Chemistry, Faculty of Medicine, University of Kelaniya, Ragama, Sri Lanka.",
    "NK Ceylon Institute of Medical Research, Negombo, Sri Lanka.",
    "Department of Medicine, Faculty of Medicine, University of Kelaniya, Ragama, Sri Lanka.",
    "University Medical Unit, Colombo North Teaching Hospital, Ragama, Sri Lanka."
  ],
  "article_type": "systematic review",
  "arxiv": null,
  "author_total": 3,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Kavindya Fernando",
      "orcid": "0000-0002-2429-8783"
    },
    {
      "affs": [
        0
      ],
      "name": "Shiromi Perera",
      "orcid": "0000-0001-9430-0087"
    },
    {
      "affs": [
        2,
        3
      ],
      "name": "Anuja Premawardhena",
      "orcid": "0000-0003-0605-9081"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/escwvycgc4ehe.bib",
  "cited_by": 0,
  "doi": "10.1002/mgg3.70330",
  "fulltext_url": "https://europepmc.org/articles/PMC13728551",
  "id": "escwvycgc4ehe",
  "issns": [
    "2324-9269"
  ],
  "landing_url": "https://europepmc.org/article/MED/42973095",
  "language": "eng",
  "licence": "CC-BY",
  "licence_label": "CC BY",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "openalex",
      "2716|Hemoglobinopathies and Related Disorders"
    ]
  ],
  "openalex": "W7225142225",
  "pdf_url": "https://europepmc.org/articles/PMC13728551?pdf=render",
  "pmcid": "PMC13728551",
  "pmid": "42973095",
  "published": "2026-11-01",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/escwvycgc4ehe.ris",
  "sources": [
    {
      "first_seen": "2026-11-04T15:20:47Z",
      "native_id": "MED:42973095",
      "source": "europepmc",
      "url": "https://europepmc.org/article/MED/42973095"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2716|Hemoglobinopathies and Related Disorders",
      "subfield": "human-genetics"
    }
  ],
  "title": "Genotypic-Phenotypic Correlations in Non-HbE β-Thalassemia Intermedia: A Geographic Systematic Review.",
  "title_text": "Genotypic-Phenotypic Correlations in Non-HbE β-Thalassemia Intermedia: A Geographic Systematic Review.",
  "type": "peer-reviewed",
  "updated_at": "2026-11-05T03:20:59Z",
  "url": "https://research.draconitic.com/paper/escwvycgc4ehe",
  "venue": "Molecular genetics & genomic medicine",
  "versions": []
}