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Genetic and Clinical Characteristics of Patients With Hereditary Spherocytosis in Hubei Province of China

18 Aug 2020

Abstract excerpt

Hereditary spherocytosis (HS) is an inherited disorder characterized by anemia, splenomegaly, and spherical-shaped erythrocytes, caused by mutations in erythrocyte membrane protein genes (ANK1, SPTB, SLC4A1, SPTA1, and EPB42). We investigated molecular spectrum and genotype-phenotype correlation in HS patients in Hubei province, central China. Twenty-three patients with HS were included. A next-generation...

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PMID: 33014018
DOI: 10.3389/fgene.2020.00953

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