Genotype and phenotype correlation in glucose-6-phosphate dehydrogenase deficiency

Genotype and phenotype correlation in glucose-6-phosphate dehydrogenase deficiency

Chair of Hematology II, University of Bari, Italy. BACKGROUND AND OBJECTIVES: 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 hema...

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Veröffentlicht in:Haematologica (Roma) 2001-01, Vol.86 (1), p.30-35
Hauptverfasser: Pietrapertosa, A, Palma, A, Campanale, D, Delios, G, Vitucci, A, Tannoia, N
Format: Artikel
Sprache:eng
Schlagworte:
Anemias. Hemoglobinopathies
Biological and medical sciences
Diseases of red blood cells
DNA Mutational Analysis
Genetic Variation
Genotype
Glucosephosphate Dehydrogenase - genetics
Glucosephosphate Dehydrogenase Deficiency - epidemiology
Glucosephosphate Dehydrogenase Deficiency - genetics
Hematologic and hematopoietic diseases
Humans
Italy - epidemiology
Medical sciences
Phenotype
Point Mutation
Retrospective Studies
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Zusammenfassung:Chair of Hematology II, University of Bari, Italy. BACKGROUND AND OBJECTIVES: 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. DESIGN AND 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 (
ISSN:0390-6078
1592-8721