Chronic hemolytic anemia associated with glucose 6-phosphate dehydrogenase (Guadalajara)1 159 C --> T (387 Arg --> Cys) deficiency associated with Gilbert syndrome in a Turkish patient

Pediatr Hematol Oncol. 2002 Jan-Feb;19(1):39-44. doi: 10.1080/088800102753356176.

Abstract

The case of an 8-year-old male child with severe kernicterus sequelae is presented in this paper. The child's hemoglobin value varied between 6.0 and 10.8 g/dL and his reticulocyte count ranged between 3.4 and 46.0% during the steady-state condition and hyperhemolytic crisis, respectively. A chronic hemolytic type of red cell G6PD deficiency was diagnosed. DNA studies indicate that the mutation was G6PD Guadalajara 1159 C --> T (387 Arg --> Cys) that is situated at the NADP binding site. Additionally, extra nucleotides of (TA) in the A(TA)n TAA motif of the promoter region of the uridine diphosphate-glucuronosyltransferase gene (UGT-1 A) were found to be homozygous in the patient. The coexistence of Gilbert syndrome with a chronic type of G6PD deficiency was suggested as a cause of neonatal hyperbilirubinemia leading to kernicterus.

Publication types

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

MeSH terms

  • Anemia, Hemolytic / etiology*
  • Child
  • Chronic Disease
  • DNA Mutational Analysis
  • Genetic Variation
  • Gilbert Disease / complications*
  • Glucosephosphate Dehydrogenase Deficiency / complications*
  • Glucosephosphate Dehydrogenase Deficiency / genetics
  • Glucuronosyltransferase / genetics
  • Homozygote
  • Humans
  • Kernicterus / etiology
  • Kernicterus / genetics
  • Kernicterus / pathology
  • Male
  • Mutation, Missense
  • Point Mutation*
  • UGT1A1 Enzyme

Substances

  • Glucuronosyltransferase
  • UGT1A1 Enzyme