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

ABSTRACT: 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 sequencing [CES], or targeted panels) in confirmed/suspected CHA patients. Pooled positive detection rates with 95% confidence intervals (CIs) were calculated using a random-effects model. Subgroup analyses stratified by family history and disease subtypes were performed. Study quality was assessed via modified STARD criteria. Ten studies involving 885 patients were included. The pool

SUBMITTER: Xie S 

PROVIDER: S-EPMC12605489 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature