The Clinical Picture of Glucose 6-phosphate Dehydrogenase Deficiency in Early Infancy.

Cases of severe neonatal jaundice not due to incompatibility or prematurity but associated with glucose 6-phosphate dehydrogenase (G-6PD) deficiency were described independently by workers in Italy (Panizon, 1959; Panizon and Meo, 1959; Panizon, 1960a, b; Segni, 1959) Singapore (Smith and Vella, 1960) and Greece (Doxiadis and Valaes, 1960; Doxiadis, Fessas, and Valaes, 1960; Valaes, Fessas, and Doxiadis, 1961). In a systematic study of a large group of infants with severe neonatal jaundice not due to incompatibility we presented conclusive evidence that there was an aetiological relation between G-6-PD deficiency and haemolysis leading to severe neonatal jaundice (Doxiadis, Fessas, Valaes, and Mastrokalos, 1961). Prior to these reports there was also mention of severe unexplained neonatal jaundice in the histories of many infants with congenital non-spherocytic haemolytic anaemia due to G-6-PD deficiency (Newton and Bass, 1958; Zinkham and Lenhard, 1959; Shahidi and Diamond, 1959). The above and other reports (Weatherall, 1960; Gilles and Arthur, 1960; Gaburro, Volpato, and Giaquinto, 1961; Lee, Tink, Robin, and Harley, 1961; Martoni, 1962; Babini and Salvioli, 1962; Jim and Chu, 1963; Flatz, Sringam, and Komkris, 1963) have firmly established G-6-PD deficiency as a cause of severe neonatal jaundice. The incidence of this clinical manifestation among the G-6PD deficient newborns varies widely from one ethnic group to the other. Thus while in Greece (Doxiadis et al., 1961), Sardinia (Panizon, 1959; Panizon and Meo, 1959; Panizon, 1960a, b), Malaya (Smith and Vella, 1960), and Thailand (Flatz et al., 1963) G-6PD deficiency is one of the major causes of severe neonatal jaundice, in the American Negroes and in some non-ashkenazi Jews with high frequency of G-6PD deficiency no cases of a severe neonatal jaundice due to this cause were found (Zinkham, 1963; Szeinberg, Oliver, Schmidt, Adam, and Sheba, 1963). We found that in Greece the cases of severe neonatal jaundice were not evenly distributed among the G-6PD deficient newborns, but that there was an accumulation of such cases in some families (Fessas, Doxiadis, and Valaes, 1962). The analysis of our material suggested that a second probably genetic factor was necessary for the manifestation of neonatal jaundice in the G-6-PD deficient infants. The absence of this second factor in some of the ethnic groups may be the explanation for the lack of neonatal jaundice among their G-6-PD deficient infants. As up to now clinical details of this type of jaundice have been published for isolated cases only, we considered that it would be of interest to present our experience of the clinical aspects of G-6-PD deficiency in early infancy based on 135 cases. Other aspects of the cases studied will be published later.