Ask the Experts: Q&A Session with G6PD Experts, Dr. Mette Donneborg and Dr. Finn Ebbesen

In our Ask the Experts series, we share insights and key takeaways from experts in the Baebies network who are conducting research that contributes to a healthy start for everyone.

For our first edition of Ask the Experts, meet Mette L. Donneborg Roed, MD, PhD and Finn Ebbesen, MD, two of four authors of the article,  “A greater awareness of children with glucose-6-phosphate dehydrogenase deficiency is imperative in western countries,” published in Acta Paediatr in 2021.

Keep reading to explore Dr. Donneborg and Dr. Ebbesen’s answers to questions about their research on G6PD deficiency.

Question #1: What one takeaway do you hope clinicians from non-endemic countries remember about your research on G6PD deficiency?

Answer: Clinicians should be aware of G6PD deficiency in high-risk populations, not just in endemic areas, so that chronic and potentially lethal consequences can be prevented.

Question #2: G6PD deficiency is most common in people from the Mediterranean, Africa or Asia. Why is it important for clinicians in non-endemic Western countries to be aware of G6PD deficiency?

Answer: G6PD deficiency is considered to be a prevalent cause of hyperbilirubinemia in neonates, born preterm or at term in developed countries. The need for phototherapy is greater in infants with a G6PD deficiency than in infants in the general population. Early detection of G6PD deficiency and close surveillance of neonates for hyperbilirubinemia is important and can reduce the risk of extreme neonatal hyperbilirubinemia and kernicterus spectrum disorders.

Question #3: G6PD deficiency is traditionally understood as a disease that affects males. What did your research reveal about its impact on females?

Answer: Females rarely experience symptoms, but we found that one in five affected children were females. The enzyme deficiency and its clinical manifestations are not restricted to males. This finding underlines the need to test females. However, clinicians need to be aware that the enzyme activity levels in heterozygous females are intermediate, but they are extremely variable due to skewed X-inactivation in some erythrocytes.

Question #4: Your research found that G6PD deficiency was a known risk in 27% of children included in the study. How might establishing clinical guidelines for G6PD deficiency diagnosis in Denmark benefit these and other at-risk children?

Answer: The timing and severity of the clinical manifestations of G6PD deficiency is unpredictable and includes sudden and abrupt rise in total serum bilirubin, therefore a guideline to establish early diagnosis of G6PD deficiency would help —at least for some—and increased awareness would also be helpful.

Question #5: Only 18 of the 33 infants who displayed their first symptom of G6PD deficiency in the neonatal period were diagnosed during that early period in their life. How can this be improved?

Answer: This could either be improved by establishing clinical guidelines, increased awareness, or performing G6PD testing on all infants being treated with phototherapy due to hyperbilirubinemia and no other known cause of the hyperbilirubinemia.

Stay tuned for more articles on G6PD deficiency and our next Ask the Experts Q&A on heparin monitoring.