A novel ANK1 gene mutation associated with hereditary spherocytosis: a case report - Takeaways - 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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  • 1

    Hereditary spherocytosis (HS) is an inherited hemolytic anemia characterized by anemia, jaundice, and splenomegaly.

  • 2

    An 8-year-old girl with HS presented with jaundice and tea-colored urine, confirmed by laboratory findings and genetic testing.

  • 3

    Whole-exome sequencing identified a novel heterozygous mutation (c.2388 + 2T > A) in the ANK1 gene linked to the patient's condition.

  • 4

    The identified mutation affects a splice donor site, leading to aberrant splicing and a dysfunctional Ankyrin-1 protein.

  • 5

    This case provides new insights into the genetic basis of hereditary spherocytosis in the Chinese population.

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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