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Peer-reviewedCC BY 4.0Frontiers in Pediatrics

Case Report: Neonatal ultra-severe hemolytic anemia complicated by pulmonary hypertension induced by compound heterozygous variants in the KLF1 gene and literature review

  • Yunzhi Liu1
  • Dejian Yuan2
  • Yanxing Lv1
  • Biwen Huang1
  • Lanqiu Hu1
  • Yongjiang Jiang1
  1. 1Department of Neonatology, Liuzhou Hospital, Guangzhou Women and Children's Medical Center, Liuzhou, Guangxi, China
  2. 2Department of Genetics and Eugenics, Liuzhou Hospital, Guangzhou Women and Children's Medical Center, Liuzhou, Guangxi, China
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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.

Methods: 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.

Results: 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.

Conclusion: 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.

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Cite

BibTeXRIS
BibTeX
@article{liu2026case,
  title = {{Case Report: Neonatal ultra-severe hemolytic anemia complicated by pulmonary hypertension induced by compound heterozygous variants in the KLF1 gene and literature review}},
  author = {Yunzhi Liu and Dejian Yuan and Yanxing Lv and Biwen Huang and Lanqiu Hu and Yongjiang Jiang},
  journal = {Frontiers in Pediatrics},
  year = {2026},
  month = oct,
  doi = {10.3389/fped.2026.1943478},
  url = {https://doi.org/10.3389/fped.2026.1943478},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - Case Report: Neonatal ultra-severe hemolytic anemia complicated by pulmonary hypertension induced by compound heterozygous variants in the KLF1 gene and literature review
AU  - Yunzhi Liu
AU  - Dejian Yuan
AU  - Yanxing Lv
AU  - Biwen Huang
AU  - Lanqiu Hu
AU  - Yongjiang Jiang
PY  - 2026
DA  - 2026/10/13
JO  - Frontiers in Pediatrics
DO  - 10.3389/fped.2026.1943478
UR  - https://doi.org/10.3389/fped.2026.1943478
AB  - 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.  Methods: 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.  Results: 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.  Conclusion: 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.
SN  - 2296-2360
ER  -