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

ABSTRACT: 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 sequencing (NGS) panel targeting ANK1, SPTB, SLC4A1, SPTA1, and EPB42 genes was used to screen potential variants. Sanger sequencing was applied to validate variants. Of the twenty-three patients, thirteen patients carried ANK1 variants, and ten patients harbored SPTB variants, including ten non-sense, six indel, four splice site, one start-loss, and one missense variant. Four out of twen

SUBMITTER: Wang X 

PROVIDER: S-EPMC7461774 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature