Diagnostic problems in severe neonatal jaundice and G6PD deficiency in Greece.

Since the first observation in Greece by Doxiadis, Fessas, and Valaes in 1960, it is now well established that a considerable proportion of full-term Greek newborns with severe jaundice (and/or anaemia) have G6PD deficiency. Similar cases have been described in other parts of the world (Freier, Mayer, Levene, and Abrahamov, 1965). G6PD deficiency and increased haemolysis are obviously cause and effect when newborns have been exposed to drugs and chemicals known to cause haemolysis in G6PD deficiency in general. However, about 50% of deficient newborns who develop severe jaundice with or without obvious haemolysis have not been exposed to one of these drugs. This particular group of babies has aroused considerable interest, research, and speculation; nevertheless, the pathogenesis of the jaundice remains obscure. In the present study we intend to expose the difficulties involved in the diagnosis of G6PD deficiency in the newborn, and especially in newborns who develop severe jaundice. The diagnostic aspects of this problem have both a practical and a theoretical interest. They are not irrelevant to the pathogenesis of jaundice. Any speculation on the mechanism of severe jaundice in babies with G6PD deficiency, and particularly in those who have not been exposed to the action of a known haemolytic compound, should take into consideration the causes underlying the diagnostic difficulties.