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Article

A Novel ANK1 Mutation in a Neonatal Hereditary Spherocytosis Case: Diagnostic Challenges and Familial Genetic Analysis.

Acta haematologica - 1 Jan 2022

Li Jing, Guo Haiyan, Zhu Zaifu, Sun Jingmin

Abstract excerpt

Hereditary spherocytosis (HS) is a congenital disease in which erythrocyte membranes are abnormal, with ANK1 defects as the main cause. The diagnosis of neonatal HS is difficult due to poor phenotypic specificity. Therefore, a detailed inquiry into family history may be helpful for diagnosis. Here, we describe a familial case of HS caused by a novel mutation in ANK1. The proband is a premature infant of Chinese...

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PMID: 35817016
DOI: 10.1159/000525054

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