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Glucose-6-phosphate dehydrogenase deficiency and neonatal indirect hyperbilirubinemia: a retrospective cohort study among 40,305 consecutively born babies

Originally published In Journal of Perinatology 13 March 2024


G6PD deficiency is a prevalent enzymatic disorder affecting over 400 million individuals globally. Its rates are higher in tropical regions such as Africa, the Mediterranean, and Southeast Asia, possibly due to its protective effect against severe malaria. Among African American males, the prevalence is around 11–12%, with carriers comprising 24%. This condition results in decreased activity of the G6PD enzyme, which is crucial for defending red blood cells against oxidative stress.

The World Health Organization has classified over 200 G6PD variants based on the severity of enzyme deficiency.

Neonatal hyperbilirubinemia is a known complication associated with G6PD deficiency. It can potentially lead to kernicterus, a form of brain damage caused by high levels of bilirubin. Phototherapy is a common intervention to manage hyperbilirubinemia and prevent kernicterus in affected neonates.

This retrospective cohort study involving 40,305 newborns revealed a G6PD deficiency rate of 2.51%, with males exhibiting a higher prevalence (3.77%) compared to females (1.2%).

• Phototherapy was administered to 24.6% of G6PD-deficient neonates.
• The prevalence of G6PD deficiency varied across different nationalities, with the Middle East recording the highest rate at 3.8%.
• Male neonates showed significantly lower G6PD enzyme levels compared to females.
• Although no statistical significance was observed in the need for phototherapy between sexes, a higher proportion of male babies received it compared to females.
• Exchange transfusion, a more invasive treatment for severe hyperbilirubinemia, was required for three full-term male newborns in the study.
• These newborns had bilirubin levels ranging from 414 μmol/L to 616 μmol/L, resulting in bilirubin encephalopathy and sensorineural hearing loss in one case.

G6PD deficiency poses a significant risk for neonatal hyperbilirubinemia and subsequent brain damage. Early detection through routine screening and timely intervention with phototherapy are crucial to prevent kernicterus and associated long-term complications. However, caution is warranted in interpreting the findings of this retrospective study.

While significant associations were found between the need for phototherapy and gestational age, as well as birth weight, only gestational age remained significant in regression analysis. Interestingly, no statistically significant association was observed between sex or G6PD enzyme levels and the need for phototherapy.

In conclusion, this study underscores the importance of routine G6PD screening and follow-up in newborns to identify those at risk for neonatal hyperbilirubinemia. Further research is needed to elucidate the complex interactions between G6PD deficiency, neonatal jaundice, and associated risk factors, allowing for more targeted interventions and improved outcomes in affected infants.

Access the original article
 

Al-Bedaywi, R. R. R., Salameh, K. M. K., Abedin, S., Viswanathan, B., Khedr, A. A., & Habboub, L. H. M. (2024). Glucose-6-phosphate dehydrogenase deficiency and neonatal indirect hyperbilirubinemia: a retrospective cohort study among 40,305 consecutively born babies. Journal of perinatology : official journal of the California Perinatal Association, 10.1038/s41372-024-01927-1. Advance online publication. https://doi.org/10.1038/s41372-024-01927-1

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