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Article

Neonatal genetic screening of Glucose-6-phosphate dehydrogenase deficiency through next-generation sequencing.

British journal of haematology - 1 May 2026

Bombaci Sabrina, Quarello Paola, Del Borrello Giovanni, Barat Veronica, Di Martino Valentina, Cagnazzo Celeste, Zucchetti Giulia, Pavanello Enza, Minucci Saverio, Fagioli Franca

Abstract excerpt

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common inherited enzymopathy worldwide. Current neonatal screening, based on enzymatic assays, often fails to identify heterozygous females due to X-chromosome inactivation. This study aimed to characterize by genotype, enzymatic activity and haematological parameters infants carrying pathogenic G6PD variants and to explore genotype-phenotype...

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Identifiers

PMID: 41856574
DOI: 10.1111/bjh.70441

Genes

G6PD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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