Glucose-6-phosphate dehydrogenase deficiency in infants with prolonged neonatal jaundice: prevalence, laboratory findings, and diagnostic performance

Vollständiger Abstract

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Aim Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an important cause of neonatal hyperbilirubinemia. However, the diagnostic value of routinely used laboratory parameters in predicting G6PD deficiency among infants with prolonged neonatal jaundice has not been adequately investigated. This study aimed to evaluate the prevalence of G6PD deficiency and assess the diagnostic performance of routine laboratory parameters in predicting it. Methods This retrospective, single-center study included 346 infants evaluated for prolonged neonatal jaundice between September 2021 and September 2025. Total and direct bilirubin, hemoglobin, free T4, TSH, and urinary tract infection (UTI) findings were compared between infants with and without G6PD deficiency. Receiver operating characteristic (ROC) analysis, Spearman correlation analysis, and logistic regression analysis were performed. Results G6PD deficiency was detected in 16 infants (4.6%). Hemoglobin levels were significantly higher in infants with G6PD deficiency (P = .022), whereas total bilirubin levels were higher but not statistically significant (P = .150). Free T4 levels were significantly higher in the G6PD-deficient group (P = .005), while TSH levels were comparable. ROC analysis showed that hemoglobin had better diagnostic performance than total bilirubin (AUC: 0.669 vs. 0.608). Logistic regression identified hemoglobin as the only independent predictor of G6PD deficiency (OR: 1.288, P = .0117). No significant association was found between G6PD deficiency and UTI. Conclusion Hemoglobin demonstrated better diagnostic performance than total bilirubin for predicting G6PD deficiency in infants with prolonged neonatal jaundice. Routine laboratory parameters, particularly hemoglobin, may provide value during the evaluation of G6PD deficiency. Larger prospective studies are warranted to confirm these findings.