A novel ANK1 gene mutation associated with hereditary spherocytosis: a case report - Report - MDSpire

A novel ANK1 gene mutation associated with hereditary spherocytosis: a case report

  • By

  • Mingqian Lai

  • Zhengqiang Luo

  • Zhenyu Yang

  • Ronghua Pan

  • Weijun Huang

  • Wensen Zhang

  • Guoda Ma

  • Riling Chen

  • May 29, 2026

  • 0 min

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Clinical Report: Identification of a new ANK1 gene mutation linked to hereditary spherocytosis

Overview

{'mutation_location': 'intron 21'}

Background

{'additional_genes': 'SPTA1, SPTB, SLC4A1, EPB42'}

Data Highlights

{'mutation_impact': 'causes aberrant splicing leading to dysfunctional Ankyrin-1'}

Key Findings

{'laboratory_findings': 'normocytic anemia, positive osmotic fragility test, spherocytes on blood smear'}

Clinical Implications

{'management_strategies': 'consider splenectomy, monitor for complications'}

Conclusion

{'further_studies': "validate mutation's role in HS and implications for genetic counseling"}

Related Resources & Content

  1. Blood Cancer Journal, 2015 -- ASXL1 mutated chronic myelomonocytic leukemia in a patient with familial thrombocytopenia secondary to germline mutation in ANKRD26
  2. Clinical Rheumatology, 2021 -- Whole genome sequencing reveals genetic variants linked to sarcoidosis in a family with a notable incidence of the disease
  3. Frontiers in Pediatrics, 2026 -- A Novel Homozygous ARFGEF2 Splice-Site Variant Causing Periventricular Nodular Heterotopia with Microcephaly
  4. Evaluation of the Eosin-5'-Maleimide Flow Cytometry Test for the Diagnosis of Hereditary Spherocytosis - PubMed
  5. The efficacy of partial versus total splenectomy in the treatment of hereditary spherocytosis in children: a systematic review and meta-analysis - PubMed
  6. Acta Neuropathologica — Activation of NTRK2 and ALK Receptor Tyrosine Kinase Fusions Broadens the Molecular Profile of Early Childhood Pleomorphic Xanthoastrocytomas: Implications for Differential Diagnosis with Infant-Type Hemispheric Glioma
  7. Evaluation of the Eosin-5'-Maleimide Flow Cytometry Test for the Diagnosis of Hereditary Spherocytosis - PubMed
  8. The efficacy of partial versus total splenectomy in the treatment of hereditary spherocytosis in children: a systematic review and meta-analysis - PubMed
  9. Pneumococcal Vaccine Recommendations | Pneumococcal | CDC

Original Source(s)

A novel ANK1 gene mutation associated with hereditary spherocytosis: a case report

  • by Mingqian Lai, Zhengqiang Luo, Zhenyu Yang, Ronghua Pan, Weijun Huang, Wensen Zhang, Guoda Ma, Riling Chen

  • May 29, 2026

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