title: Genotype and phenotype correlation in glucose-6-phosphate dehydrogenase deficiency.
abstract: OBJECTIVE
  Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common erythrocytic enzymatic disorder in Italy and is characterized by wide clinical, biochemical and molecular variability. We studied the clinical and hematologic data from 54 G6PD-deficient, unrelated males from the Apulia region.
  
  
  METHODS
  Analyses for enzymatic activity, G6PD electrophoresis and molecular typing were performed on all subjects. Thirty-nine subjects (72.2%) showed a severe G6PD deficiency (<10% residual enzymatic activity) and 15 subjects (27.8%) a moderate deficiency (10--60% residual activity).
  
  
  RESULTS
  The Mediterranean variant was found in 48.2% of cases, the Seattle variant in 33.3%, the A- variant in 7.45% and the Montalbano variant in 3.7%; the variant was not identified in four subjects. Thirty-two patients (59.2%) were asymptomatic; of these, 37.04% demonstrated acute hemolytic crises induced mainly by ingestion of fava beans and 3.7% had had neonatal jaundice. Acute hemolytic anemia was found in 53.8% of subjects with the Mediterranean variant, in 5.5% with the Seattle variant, in 100% with the A-variant and 0% with the Montalbano variant.
  
  
  CONCLUSIONS
  Enzymatic activity was shown to be a poor predictive parameter of acute hemolytic crises and was not correlated with clinical features. Subjects with Mediterranean or A- variants had a more severe clinical phenotype which was not related to enzymatic activity. The Seattle, and probably the Montalbano, variant appears to have a milder clinical expression.
authors.affiliation: Chair of Hematology II, University of Bari, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Pietrapertosa
authors.forename: A
authors.initials: A
authors.lastname: Palma
authors.forename: D
authors.initials: D
authors.lastname: Campanale
authors.forename: G
authors.initials: G
authors.lastname: Delios
authors.forename: A
authors.initials: A
authors.lastname: Vitucci
authors.forename: N
authors.initials: N
authors.lastname: Tannoia
mesh_terms: D004252:DNA Mutational Analysis; D014644:Genetic Variation; D005838:Genotype; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007558:Italy / Q000453:epidemiology; D010641:Phenotype; D017354:Point Mutation; D012189:Retrospective Studies
chemical_list: D005954:Glucosephosphate Dehydrogenase