{
  "abstract": "Non-deletional hemoglobin (Hb) H and Hb H-like diseases are clinically significant forms of α-thalassemia with variable severity. In this study, we aimed to update the molecular spectrum of these conditions in southern Thailand and revise the allele proportions of α-thalassemia mutations among screened carriers from different regions in Thailand. A total of 118 patients with non-deletional Hb H or Hb H-like disease were characterized using DNA sequencing and multiplex ligation-dependent probe amplification analysis, and 679 possible α-thalassemia carriers were analyzed to determine allele proportion. Ten distinct genotypes were identified. Hb H-Constant Spring (CS) disease was the most frequent (79.7%), followed by non-deletional Hb H with Hb E heterozygosity (13.6%). Among patients with non-deletional Hb H disease, 76.5% of those with Hb H-CS disease and 68.8% of those with non-deletional Hb H disease and Hb E heterozygosity were classified as NTDT. Three cases of Hb H-like disease with a TDT phenotype caused by compound heterozygous Hb CS/Hb Adana were identified for the first time in Thailand. Homozygous Hb Chumphae was also reported for the first time to exhibit a mild clinical phenotype. Hb Adana was detected at an allele proportion of 1.8% among screened carriers from Southern Thailand, and a multiplex AS-PCR for simultaneous detection of Hb CS, Hb Paksé, and Hb Adana was developed.",
  "abstract_shown": true,
  "affiliations": [
    "Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen 40002, Thailand",
    "Department of Pathology, Faculty of Medicine, Prince of Songkla University, Songkhla 90110, Thailand",
    "Department of Medical Technology, School of Allied Health Sciences, University of Phayao, Phayao 56000, Thailand",
    "Department of Pathology, Maha Chakri Sirindhorn Medical Center, Faculty of Medicine, Srinakharinwirot University, Nakhon Nayok 26120, Thailand",
    "Medical Genetic and Genomics Laboratory Unit, Maha Chakri Sirindhorn Medical Center, Faculty of Medicine, Srinakharinwirot University, Nakhon Nayok 26120, Thailand",
    "Research Cluster in Hematology and Genetic Diseases, Faculty of Medicine, Srinakharinwirot University, Nakhon Nayok 26120, Thailand",
    "Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Songkhla 90110, Thailand"
  ],
  "article_type": null,
  "arxiv": null,
  "author_total": 6,
  "authors": [
    {
      "affs": [
        0,
        1
      ],
      "name": "Wanicha Tepakhan",
      "orcid": "0000-0003-4111-7910"
    },
    {
      "affs": [
        2
      ],
      "name": "Sitthichai Panyasai",
      "orcid": "0000-0002-7589-3849"
    },
    {
      "affs": [
        3,
        4,
        5
      ],
      "name": "Wittaya Jomoui",
      "orcid": "0000-0002-6035-3006"
    },
    {
      "affs": [
        1
      ],
      "name": "Sataron Kanjanaopas"
    },
    {
      "affs": [
        1
      ],
      "name": "Korntip Srewaradachpisal"
    },
    {
      "affs": [
        6
      ],
      "name": "Pornpun Sripornsawan"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/6xzemyn7tm3v3.bib",
  "cited_by": 0,
  "doi": "10.3390/ijms27219970",
  "fulltext_url": null,
  "id": "6xzemyn7tm3v3",
  "issns": [
    "1422-0067"
  ],
  "landing_url": "https://www.mdpi.com/1422-0067/27/21/9970",
  "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": null,
  "pdf_url": null,
  "pmcid": null,
  "pmid": null,
  "published": "2026-11-06",
  "publisher": "MDPI AG",
  "ris": "https://research.draconitic.com/paper/6xzemyn7tm3v3.ris",
  "sources": [
    {
      "first_seen": "2026-11-10T00:21:27Z",
      "native_id": "10.3390/ijms27219970",
      "source": "crossref",
      "url": "https://www.mdpi.com/1422-0067/27/21/9970"
    }
  ],
  "subjects": [
    {
      "field": "biochemistry",
      "origin": "issn:1422-0067",
      "subfield": "general"
    }
  ],
  "title": "Updating the Molecular Spectrum of Non-Deletional Hb H and Hb H-like Disease in Southern Thailand",
  "title_text": "Updating the Molecular Spectrum of Non-Deletional Hb H and Hb H-like Disease in Southern Thailand",
  "type": "peer-reviewed",
  "updated_at": "2026-11-10T00:21:27Z",
  "url": "https://research.draconitic.com/paper/6xzemyn7tm3v3",
  "venue": "International Journal of Molecular Sciences",
  "versions": []
}