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Article

The application of next-generation sequencing technology in congenital haemolytic anaemia: a systematic review and meta-analysis.

Clinical and experimental medicine - 11 Nov 2025

Xie Shuning, Zhong Yanling

Abstract excerpt

Congenital haemolytic anaemia (CHA) poses diagnostic challenges due to genetic heterogeneity. This systematic review and meta-analysis evaluates the diagnostic efficacy of next-generation sequencing (NGS) in CHA. We systematically searched PubMed and Web of Science until April 2025. Inclusion criteria encompassed studies applying NGS (whole-exome sequencing [WES], whole-genome sequencing [WGS], clinical exome...

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Topics

Humans
Anemia, Hemolytic, Congenital
Exome Sequencing
High-Throughput Nucleotide Sequencing
Mutation
Whole Genome Sequencing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

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Identifiers

PMID: 41217551
DOI: 10.1007/s10238-025-01896-5
PMCID: PMC12605489

Genes

ANK1
SPTB
PKLR
SPTA1
SLC4A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 19 Oct 2026.

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