Open access
Jan 2026
A Pathogenic ANK1 c.5096G>A Mutation Disrupting the Ankyrin‐1/β‐Spectrin Interaction in Hereditary Spherocytosis
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 h...
Ling-Long Xu, Jing-Wen Gao, Wen-Ting Zhu et al.
· Human Mutation · 0 citations