G6PD is a cytoplasmic enzyme in the hexose monophosphate pathway responsible for the production of glutathione. It helps to protect the red blood cell from oxidative damage.
The G6PD gene lies on the X chromosome, and over 300 mutations have been described. Therefore, G6PD deficiency is a common X-linked recessive genetic disorder affecting
Because of the high gene frequency in some regions, homozygous affected females are not uncommon. Females may also be affected through Lyonisation or if they have Turner’s Syndrome.
There are 3 major clinical disorders
Newborn infants with immature and deficient enzyme pathways are at greater risk of developing haemolytic anaemia than adults. However, neonates usually present with jaundice in the absence of anaemia. Jaundice can be severe and result in kernicterus.
Causes of haemolytic anaemia
Balnchette V, Doyle J, Schmidt B, Zipursky A. Hematology. In Neonatology: Pathophysiology and Management of the Newborn, 4th ed. Philadelphia: JB Lipincott Co 1994; 952-999
RPA Neonatal Unit Protocol: Haemolytic Jaundice (look under 'Other Causes of Haemolytic Jaundice)