Detecting G6PD Deficiency in Children

LabMind

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic condition that can lead to life-threatening hemolysis in both children and adults. Early and accurate diagnosis is critical, but identifying G6PD deficiency in newborns and young children isn’t always straightforward—most reference intervals are based on adult values, which don’t necessarily apply to pediatric patients. In this interview, Dr. Kelly Doyle, an ARUP medical director of Special Chemistry, Endocrinology, and Mass Spectrometry, shares insights from novel methods to establish pediatric-specific reference intervals. Using an innovative indirect approach and a large dataset of patient results, Dr. Doyle explains how these new standards can improve diagnosis and care for children worldwide.