Article
A Pathogenic ANK1 c.5096G>A Mutation Disrupting the Ankyrin-1/β-Spectrin Interaction in Hereditary Spherocytosis.
Human mutation - 1 Jan 2026
Linglong Xu, Jingwen Gao, Wenting Zhu, Nina Lu, Xiaoxiao Ding, Lei Zhao, Siyun Zhou, Zihao Cai, Zhengyang Zhong, Bo Zhu, Sai Chen, Yanrong Guo, Jianlin Chen, Jie Chen, Xiaofei Ding, Guang Chen
Abstract excerpt
Hereditary spherocytosis (HS) is a common inherited hemolytic anemia characterized by spherical erythrocytes, splenomegaly, and increased osmotic fragility, with ANK1 mutations being the most frequent cause. We identified a novel ANK1 mutation (c.5096G>A, p.R1699K) in a patient with classic HS phenotypes and a family history of hemolytic anemia. To explore its pathogenicity, we performed a series of hematological...
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