Glucose-6-phosphate dehydrogenase deficiency and severe neonatal hyperbilirubinemia: a complexity of interactions between genes and environment

摘要

Glucose-6-phosphate dehydrogenase deficiency is a commonly occurring genetic condition, likely to be encountered today in virtually any corner of the globe. Sudden episodes of hemolysis associated with the condition may result in exponential increases in serum total bilirubin concentrations to levels at which bilirubin-induced neurologic damage may occur. The hyperbilirubinemia is the result of complex interactions between genes and environment. Neonatal screening programs coupled with parental and medical caretaker education may be successful in limiting the severity of disease.Deficiency of the enzyme glucose-6-phosphate dehydrogenase (G6PD) was recently estimated to affect 330 million individuals worldwide, or 4.9% of the global population.1 Classically, the condition is notorious for acute hemolytic crises which may occur following ingestion of fava beans (favism) or certain drugs, contact with chemicals, or infections.2"4 Another potentially devastating complication is that of acute and severe neonatal hyperbilirubinemia, with the potential for irreversible bilirubin-induced neurologic damage (BIND), known as kernicterus. Indeed, recent reports indicate that, relative to the background frequency of G6PD deficiency in any given population, this condition is over-represented in series of severe hyperbilirubinemia and kernicterus.5"8 G6PD-deficiency-associated BIND can be seen not only in geographic areas with a high frequency of G6PD deficiency, but in countries in which G6PD deficiency has not been recognized as a major public health problem.