Alternative DNA-based newborn screening for glucose-6-phosphate dehydrogenase deficiency

Abstract

Newborn screening for G6PD deficiency has been carried out in several countries for more than 25 years. A semi-quantitative enzymatic assay has been used in most laboratories, however, heat inactivation during the summer can cause a significant increase in the false positive rate for this assay. We have developed an alternative DNA-based newborn screening assay for the detection of common mutations within the G6PD gene. The panel of mutations includes the common African A- mutation (G202A;A376G), the common Mediterranean mutation (C563T), and two common Chinese mutations (G1376T and G1388A). A parallel study was performed through screening a total of 4245 neonatal specimens using both the enzymatic and the DNA-based assays. In this population, 49 newborns were identified as hemizygous or homozygous for the A- mutation with an average enzyme activity of 59 μM, 323 were identified as a carrier or unaffected with an average enzyme activity of 208 μM, and no mutation was detected for the remaining 3873 specimens with an average enzyme activity of 234 μM. With this panel of mutations, more than 90% of all affected infants can be identified in our population.