Glucose-6-phosphate dehydrogenase deficiency (G6PDD) is a frequent cause of neonatal jaundice and could represent an important differential diagnosis for hemolytic disease of the fetus and newborn (HDFN), according to a recently published study in Research Square.
The yellowish pigmentation of the skin and the whites of the eyes due to excessive bilirubin blood levels is known as jaundice, and it can be a symptom of several diseases in both newborns and adults. Differentiating between causes can represent a significant challenge for physicians, particularly in cases involving newborns.
The destruction of red blood cells (hemolysis) liberates bilirubin into the bloodstream, thus representing a significant cause of jaundice. HDFN represents a potential cause of hemolysis mediated by maternal antibodies during pregnancy; however, many other causes of hemolysis should be considered when making a diagnosis.
G6PDD is a congenital disease in which the deficiency of a cellular enzyme responsible for protecting the red blood cells against oxidative stress leads to hemolysis and neonatal jaundice. The disease is particularly common in tropical and subtropical regions such as the Middle East. However, not all patients with G6PDD end up developing hemolysis.
The frequency of the disease has prompted researchers in countries such as Qatar to perform routine G6PDD testing in all newborns. The authors of the study aimed to perform an epidemiological study to assess the frequency of the condition, how often it leads to jaundice and which factors increase the risk of developing jaundice in patients with G6PDD.
In a sample of over 40,000 births, the incidence of G6PDD was approximately 2.5%, and researchers observed that the condition was more frequent in males than in females. Of the total population of patients with G6PDD, approximately 24% ended up developing hemolysis and jaundice and required blood transfusions and phototherapy.
Among the risk factors associated with developing jaundice due to G6PDD, the authors found gestational age, gestational age groups and weight.
“Our study demonstrates that this model of routine G6PD screening and routine follow-up could reduce the need for exchange transfusion and help prevent chronic sequelae of hyperbilirubinemia associated with G6PD deficiency,” the authors concluded.
