Severe jaundice in a patient with a previously undescribed glucose-6-phosphate dehydrogenase (G6PD) mutation and Gilbert syndrome

Blood Cells Mol Dis. 2002 Mar-Apr;28(2):104-7. doi: 10.1006/bcmd.2002.0491.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Anemia, Hemolytic, Congenital / complications
  • Anemia, Hemolytic, Congenital / genetics
  • DNA Mutational Analysis
  • Genetic Variation
  • Gilbert Disease / complications*
  • Gilbert Disease / diagnosis
  • Gilbert Disease / genetics
  • Glucosephosphate Dehydrogenase / genetics*
  • Glucosephosphate Dehydrogenase Deficiency / complications
  • Glucosephosphate Dehydrogenase Deficiency / genetics
  • Glucuronosyltransferase / genetics
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics
  • Humans
  • Jaundice / etiology*
  • Jaundice / genetics
  • Male
  • Membrane Proteins / genetics
  • Mutation
  • Promoter Regions, Genetic / genetics

Substances

  • HFE protein, human
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Membrane Proteins
  • Glucosephosphate Dehydrogenase
  • glucose-6-phosphate dehydrogenase La Jolla
  • UGT1A1 enzyme
  • Glucuronosyltransferase