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Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis.

Molecular genetics & genomic medicine - 1 Apr 2021

Xie Fei, Lei Lei, Cai Bin, Gan Lu, Gao Yu, Liu Xiaoying, Zhou Lin, Jiang Jinjin

Abstract excerpt

PURPOSE: Objective to summarize the clinical features and laboratory findings of 28 Chinese children with hereditary spherocytosis (HS), and analyze these mutations. METHOD: Collected and analyzed the clinical data of all children and their parents, and completed the relevant laboratory examinations of all children. Analyzed the sequence of related genes by second-generation sequencing technology, and verified...

Topics

Anion Exchange Protein 1, Erythrocyte
Ankyrins
Child
Child, Preschool
Female
Humans
Infant
Loss of Function Mutation
Male
Phenotype
Spectrin

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Spherocytosis, Hereditary

Source

Open in PubMed Open full text

Identifiers

PMID: 33620149
DOI: 10.1002/mgg3.1577
PMCID: PMC8123760

Genes

ANK1
SLC4A1
SPTA1
SPTB

Provenance

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

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