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Screening for glucose-6-phosphate dehydrogenase deficiency can prevent severe neonatal jaundice
A A Mallouh1, G Imseeh, Y K Abu-Osba
1Department of Pediatrics, Dhahran Health Center, Saudi Arabia.
Insights
Neonatal screening for glucose-6-phosphate dehydrogenase (G6PD) deficiency is crucial. Early detection and education prevent severe hyperbilirubinaemia, kernicterus, and fatalities in infants with G6PD deficiency.
Area of Science:
- Medical Genetics
- Neonatal Medicine
- Public Health
Background:
- Severe glucose-6-phosphate dehydrogenase (G6PD) deficiency in infants can lead to kernicterus, acute haemolysis, and death.
- G6PD deficiency is often overlooked in newborn screening programs despite its potential severity.
Purpose of the Study:
- To evaluate the effectiveness of a comprehensive neonatal screening and educational program for G6PD deficiency.
- To determine the incidence of G6PD deficiency and its associated complications in a large infant population.
Main Methods:
- Conducted a screening program testing approximately 34,000 infants for G6PD deficiency.
- Monitored G6PD-deficient infants for complications such as hyperbilirubinaemia requiring exchange transfusion.
- Compared outcomes in screened infants versus unscreened infants born at home.
Main Results:
- 18.4% of infants screened were G6PD deficient (24.5% boys, 11.8% girls).
- 0.67% of G6PD-deficient infants required exchange transfusion; none developed kernicterus.
- Three infants born at home without screening developed kernicterus; four additional cases occurred prior to the program.
Conclusions:
- Neonatal screening for G6PD deficiency, coupled with education, is advisable in regions where the severe variant is prevalent.
- Screening significantly reduces the incidence of kernicterus in infants with G6PD deficiency.
- Early identification and management are critical to prevent severe outcomes associated with G6PD deficiency.
Abstract:
Infants with the severe variant of glucose-6-phosphate dehydrogenase (G6PD) deficiency may develop hyperbilirubinaemia sufficiently severe to cause kernicterus and death, acute haemolysis on exposure to oxidant stress, congenital non-spherocytic haemolytic anaemia and, rarely, increased susceptibility to bacterial infection. In spite of these potential problems, G6PD deficiency is often not included among screening programmes for inherited disorders. In a comprehensive screening and educational programme, we tested around 34,000 infants for G6PD deficiency. Of the total group, 18.4% (24.5% boys and 11.8% girls) were deficient. Forty-two of the 6246 (0.67%) G6PD-deficient infants required exchange transfusion. None of them developed kernicterus. By contrast, of 4755 infants who had not been screened because they were born at home, three developed kernicterus. In addition, four G6PD-deficient infants had developed kernicterus in the 20-month period prior to the screening programme. None of the hyperbilirubinaemic infants had blood group incompatibility or any other identifiable cause of hyperbilirubinaemia. To avoid this disastrous result, we believe that neonatal screening for G6PD deficiency, together with a comprehensive education programme, is advisable in those parts of the world where the severe variant of G6PD deficiency is prevalent.