title: 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.
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.
authors.affiliation: Department of Molecular Biology, Hacettepe University, Ankara, Turkey.
authors.forename: R
authors.initials: R
authors.lastname: Oner
authors.forename: C
authors.initials: C
authors.lastname: Acar
authors.forename: C
authors.initials: C
authors.lastname: Oner
authors.forename: I
authors.initials: I
authors.lastname: Yenicesu
authors.forename: F
authors.initials: F
authors.lastname: Gümrük
authors.forename: A
authors.initials: A
authors.lastname: Gürgey
authors.forename: C
authors.initials: C
authors.lastname: Altay
mesh_terms: D000743:Anemia, Hemolytic / Q000209:etiology*; D002648:Child; D002908:Chronic Disease; D004252:DNA Mutational Analysis; D014644:Genetic Variation; D005878:Gilbert Disease / Q000150:complications*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications* / Q000235:genetics; D014453:Glucuronosyltransferase / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007647:Kernicterus / Q000209:etiology / Q000235:genetics / Q000473:pathology; D008297:Male; D020125:Mutation, Missense; D017354:Point Mutation; D000099148:UGT1A1 Enzyme
chemical_list: D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme