MOLECULAR HETEROGENEITY OF GLUCOSE-6-PHOSPHATE-DEHYDROGENASE (G6PD) VARIANTS IN ITALY

Background. Glucose-6-phosphate dehydrogenase deficiency, one of-the m ost common human enzymatic defects, is characterized by extreme molecu lar and biochemical heterogeneity. The molecular bases of almost all p olymorphic Italian variants have now been identified and the overall h eterogeneity is lower than expected from biochemical data. Methods. We examined 161 G6PD-deficient subjects (130 males and 31 females) origi nating from different parts of Italy. C6PD activity and molecular char acterization were determined in all the subjects analyzed. Results. We found the G6PD Mediterranean genotype in roughly 70%, C6PD Union and C6PD Seattle in about 6% and G6PD A- in 4% of the samples analyzed. C6 PD S. Antioco and G6PD Cosenza were less frequent (1.2%), and single c ases of C6PD Partenope and C6PD Tokyo were also detected. Conclusions. We report the frequency and distribution of the most common G6PD vari ants in Italy. Greater molecular heterogeneity than described by other s was observed, especially in Sardinia. Among the severe deficient var iants, C6PD Mediterranean has a higher prevalence in Sardinia (83%) th an in continental Italy (61%), as does C6PD Union (10%, and 4%, respec tively). G6PD Seattle and A-, associated with mild G6PD deficiency, ar e by contrast more frequent in continental Italy. (C) 1997, Ferrata St orti Foundation.