title: Severe jaundice in a patient with a previously undescribed glucose-6-phosphate dehydrogenase (G6PD) mutation and Gilbert syndrome.
abstract: A patient with chronic hemolytic anemia and G6PD deficiency was noted to be severely jaundiced and to have a high serum ferritin level. Analysis of his DNA revealed only heterozygosity for the c.187 C-->G (H63D) mutation of HFE, but showed that he was homozygous for the UDP glucuronosyltransferase promoter mutation of Gilbert's disease and that he had a previously undescribed mutation of G6PD, c.832 T-->C (Ser278Pro). The new variant was named G6PD La Jolla.
authors.affiliation: Department of Molecular and Experimental Medicine, Division of Hematology, The Scripps Research Institute, La Jolla, California 92037, USA. beutler@scripps.edu
authors.forename: Ernest
authors.initials: E
authors.lastname: Beutler
authors.forename: Terri
authors.initials: T
authors.lastname: Gelbart
authors.forename: William
authors.initials: W
authors.lastname: Miller
mesh_terms: D000328:Adult; D000745:Anemia, Hemolytic, Congenital / Q000150:complications / Q000235:genetics; D004252:DNA Mutational Analysis; D014644:Genetic Variation; D005878:Gilbert Disease / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications / Q000235:genetics; D014453:Glucuronosyltransferase / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D007565:Jaundice / Q000209:etiology* / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D011401:Promoter Regions, Genetic / Q000235:genetics; D000099148:UGT1A1 Enzyme
chemical_list: D005954:Glucosephosphate Dehydrogenase; D014453:Glucuronosyltransferase; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D000099148:UGT1A1 Enzyme; C103673:HFE protein, human; C476035:glucose-6-phosphate dehydrogenase La Jolla