title: Combined erythrocyte glucosephosphate isomerase (GPI) and glucose-6-phosphate dehydrogenase (G6PD) deficiency in an Italian family.
abstract: A severe hemolytic crisis was observed in a 5-year-old boy of Italian origin. Analysis of his hemolysate revealed a hemizygous deficiency of glucose-6-phosphate dehydrogenase (G6PD) and a heterozygous deficiency of glucosephosphate isomerase (GPI). According to the literature this is the fourth family with a combined deficiency of these two enzymes located on different chromosomes. Only the G6PD deficiency seems to be responsible for the hemolytic crisis.
mesh_terms: D000743:Anemia, Hemolytic / Q000201:enzymology / Q000235:genetics*; D000746:Anemia, Hemolytic, Congenital Nonspherocytic; D002648:Child; D004912:Erythrocytes / Q000201:enzymology*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D006801:Humans; D007558:Italy / Q000208:ethnology; D008297:Male; D010375:Pedigree