Favism: looking for an autosomal gene associated with glucose-6-phosphate dehydrogenase deficiency.

Abstract

Favism is a severe, acute hemolytic anemia which occurs in .apprx. 20% of G6PD [glucose-6-phosphate dehydrogenase] deficient subjects after ingestion of fava beans. Since not all G6PD deficient subjects are sensitive to fava beans, the possibility was suggested that extra erythrocytic factors may play an important role in the susceptibility to hemolytic favism. To test the hypothesis that an autosomal enzyme is involved in the pathogenesis of favism, a .beta.-glucosidase assay was carried out in small intestine biopsies from normal subjects and G6PD deficient subjects with or without favism. .beta.-Glucosidase might be involved in the absorption and metabolism of fava beans and a quantitative polymorphism could explain the different susceptibility to fava beans of G6PD deficient subjects. No consistent quantitative polymorphism of .beta.-glucosidases was found in the subjects examined.