No abstract

Glucose-6-phosphate dehydrogenase (G6PD) was partially purified from red blood cells of 44 Sardinian males with severe enzymatic deficiency and the variants characterized chromatographically and biochemically to see if there is genetic heterogeneity of the enzyme in Southern Sardinia. Three different variants associated with severe G6PD deficiency were identified: the common G6PD Mediterranean variant; G6PD Sassari, recently described by Testa et al. (1980), and a new variant that we have designated G6PD Cagliari. Family studies were carried out to demonstrate that these variants are due to the presence of different alleles.

A patient with primary shunt hyperbilirubinemia associated with Gilbert's syndrome is described. The laboratory findings of unconjugated hyperbilirubinemia, mild reticulocytosis, normoblastic erythroid hyperplasia of bone marrow, increased plasma iron turnover, and normal peripheral red blood cell survival were consistent with increased intramedullary hemolysis. Nevertheless, unconjugated bilirubin level exceeding 4 mg/100 mL, in the absence of appreciable anemia and of biochemical evidence of hepatic dysfunction, suggested the coexistence of defective hepatic bilirubin clearance. The mode of inheritance and the effect of fasting and phenobarbital on bilirubin concentrations were indicative of associated Gilbert's syndrome.