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Clinical and genetic characteristics of Chinese pediatric and adult patients with hereditary spherocytosis.

Orphanet journal of rare diseases - 24 Jul 2024

Wu Chongjun, Yan Yixin, Xiong Ting, Jiang Wen, Xu Jing, Rao Yanfei, Ao Jianyun, Xu Chun, Li Xuehong, Qi Longwang, Zheng Wenhong, Li Wenjin, Xu Zhongjin, Yang Yu, Li Zhenjiang

Abstract excerpt

OBJECTIVE: This study aimed to investigate the clinical features, pathogenic gene variants, and potential genotype-phenotype correlations in Chinese patients with hereditary spherocytosis (HS). METHODS: Retrospective analysis of clinical data and molecular genetic characteristics was conducted on patients diagnosed with HS at Jiangxi Provincial Children's Hospital, the Second Affiliated Hospital of Nanchang...

Topics

Adolescent
Adult
Child
Female
Humans
Male
Young Adult
Anion Exchange Protein 1, Erythrocyte
Ankyrins
East Asian People
Erythrocyte Indices

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Retrospective Studies

Spectrin

Spherocytosis, Hereditary

Source

Open in PubMed Open full text

Identifiers

PMID: 39044243
DOI: 10.1186/s13023-024-03290-y
PMCID: PMC11267807

Genes

ANK1
SPTB
SLC4A1

Provenance

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

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