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Article

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...

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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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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