March 3, 2026Open Access

Neonatal Screening for Glucose-6-Phosphate Dehydrogenase (G6PD) Gene Variants and Their Association With Hyperbilirubinemia and Phototherapy Needs

Key Points

G6PD deficiency is prevalent, significantly linked to the c.563C>T mutation in this population.
Independent predictors for phototherapy include a positive Coombs test and multiple gene copies, indicating their importance.
Observational analysis reveals that specific G6PD variants did not correlate with hyperbilirubinemia severity, stressing monitoring necessity.
These findings support early screening for G6PD to reduce the risk of severe neonatal hyperbilirubinemia.

Abstract

G6PD deficiency was common in this cohort and was mainly associated with the c.563C>T mutation. A positive Coombs test and multiple gene copies were independent predictors of phototherapy, whereas specific G6PD variants were not associated with hyperbilirubinemia severity. These findings support the importance of early G6PD screening and vigilant monitoring to prevent severe neonatal hyperbilirubinemia.

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Cite This Study

Alwadani et al. (Wed,) studied this question.

synapsesocial.com/papers/69a75bcec6e9836116a23cbb https://doi.org/https://doi.org/10.7759/cureus.102459

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