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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Discussion

Authors

Ismail M Alwadani

Raghad Almuslim

Mohammad Almutairi

Journals

Cureus

Actions

Institutions

Saudi Aramco Medical Services Organization

References and Citations

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Building similarity graph...

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

Key Points

Abstract

Citation Network

Connected Papers

Discussion

Authors

Journals

Actions

Institutions

References and Citations

Citation Network

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Discussion

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