{
  "abstract": "Objective: To investigate the clinical characteristics, genotypic profiles, and diagnostic/therapeutic strategies for congenital hemolytic anemia induced by compound heterozygous variants in the KLF1 gene.\n\nMethods: We retrospectively analyzed the clinical data of a neonate who presented primarily with ultra-severe anemia, elevated direct bilirubin, and pulmonary hypertension. Whole-exome sequencing (WES) was utilized for variant identification, followed by a comprehensive review of literature.\n\nResults: The patient, a female neonate, developed severe anemia within 10 h of birth, accompanied by rapidly progressing hyperbilirubinemia (predominantly direct hyperbilirubinemia). Bedside echocardiography revealed a patent ductus arteriosus (PDA) and pulmonary hypertension. Trio-WES identified pathogenic compound heterozygous variants in the KLF1 gene: c.519_525dup (p.Gly176ArgfsTer179) and c.1012C > A (p.Pro338Thr). Following multiple red blood cell transfusions and mechanical ventilatory support, the infant's condition stabilized. During a 24-month follow-up, the patient exhibited transfusion-dependent anemia.\n\nConclusion: For neonates presenting with unexplained (Coombs/DAT-negative) severe hemolytic anemia, particularly when complicated by pulmonary hypertension and atypical cholestasis, early genetic testing should be performed to rule out KLF1-related diseases.",
  "abstract_shown": true,
  "affiliations": [
    "Department of Neonatology, Liuzhou Hospital, Guangzhou Women and Children's Medical Center, Liuzhou, Guangxi, China",
    "Department of Genetics and Eugenics, Liuzhou Hospital, Guangzhou Women and Children's Medical Center, Liuzhou, Guangxi, China"
  ],
  "article_type": "case report",
  "arxiv": null,
  "author_total": 6,
  "authors": [
    {
      "affs": [
        0
      ],
      "name": "Yunzhi Liu"
    },
    {
      "affs": [
        1
      ],
      "name": "Dejian Yuan"
    },
    {
      "affs": [
        0
      ],
      "name": "Yanxing Lv"
    },
    {
      "affs": [
        0
      ],
      "name": "Biwen Huang"
    },
    {
      "affs": [
        0
      ],
      "name": "Lanqiu Hu"
    },
    {
      "affs": [
        0
      ],
      "name": "Yongjiang Jiang"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/7pa0wrxtc2rke.bib",
  "cited_by": 0,
  "doi": "10.3389/fped.2026.1943478",
  "fulltext_url": "https://pmc.ncbi.nlm.nih.gov/articles/PMC13710379/",
  "id": "7pa0wrxtc2rke",
  "issns": [
    "2296-2360"
  ],
  "landing_url": "https://doi.org/10.3389/fped.2026.1943478",
  "language": "en",
  "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": [
    [
      "heading",
      "Case Report"
    ],
    [
      "openalex",
      "2716|Hemoglobinopathies and Related Disorders"
    ]
  ],
  "openalex": "W7221685123",
  "pdf_url": "https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2026.1943478/pdf",
  "pmcid": "PMC13710379",
  "pmid": "42947917",
  "published": "2026-10-13",
  "publisher": "Frontiers Media SA",
  "ris": "https://research.draconitic.com/paper/7pa0wrxtc2rke.ris",
  "sources": [
    {
      "first_seen": "2026-10-31T12:21:21Z",
      "native_id": "PMC13710379",
      "source": "pmc",
      "url": "https://doi.org/10.3389/fped.2026.1943478"
    }
  ],
  "subjects": [
    {
      "field": "medicine",
      "origin": "openalex:2716|Hemoglobinopathies and Related Disorders",
      "subfield": "human-genetics"
    }
  ],
  "title": "Case Report: Neonatal ultra-severe hemolytic anemia complicated by pulmonary hypertension induced by compound heterozygous variants in the KLF1 gene and literature review",
  "title_text": "Case Report: Neonatal ultra-severe hemolytic anemia complicated by pulmonary hypertension induced by compound heterozygous variants in the KLF1 gene and literature review",
  "type": "peer-reviewed",
  "updated_at": "2026-10-31T12:21:21Z",
  "url": "https://research.draconitic.com/paper/7pa0wrxtc2rke",
  "venue": "Frontiers in Pediatrics",
  "versions": []
}