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Identification of new mutations in patients with hereditary spherocytosis by next-generation sequencing.

Journal of human genetics - 1 Apr 2020

Qin Li, Nie Yanbo, Zhang Hong, Chen Long, Zhang Donglei, Lin Yani, Ru Kun

Abstract excerpt

Hereditary spherocytosis (HS) is the most common inherited hemolytic anemia characterized by the presence of spherical-shaped erythrocytes on the peripheral blood smear, hemolysis, splenomegaly, jaundice, and gallstones. To date, mutations in at least five genes (ANK1, EPB42, SLC4A1, SPTA1, and SPTB) have been found to be associated with different subtypes of HS. Here, we aim to investigate the presence of novel...

Topics

Adolescent
Adult
Anion Exchange Protein 1, Erythrocyte
Ankyrins
Child
Child, Preschool
Female
High-Throughput Nucleotide Sequencing
Humans
Infant
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Mutation

Spectrin

Spherocytosis, Hereditary

Source

Identifiers

PMID: 31980736
DOI: 10.1038/s10038-020-0724-z

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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