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Titolo:
Genotype and phenotype correlation in glucose-6-phosphate dehydrogenase deficiency
Autore:
Pietrapertosa, A; Palma, A; Campanale, D; Delios, G; Vitucci, A; Tannoia, N;
Indirizzi:
Univ Bari, Policlin, Chair Hematol 2, I-70124 Bari, Italy Univ Bari BariItaly I-70124 iclin, Chair Hematol 2, I-70124 Bari, Italy
Titolo Testata:
HAEMATOLOGICA
fascicolo: 1, volume: 86, anno: 2001,
pagine: 30 - 35
SICI:
0390-6078(200101)86:1<30:GAPCIG>2.0.ZU;2-#
Fonte:
ISI
Lingua:
ENG
Soggetto:
G6PD DEFICIENCY; MOLECULAR CHARACTERIZATION; INTERNATIONAL COMMITTEE; GENETIC-HETEROGENEITY; POINT MUTATIONS; VARIANTS; PREVALENCE; STANDARDIZATION; HEMATOLOGY; EXPERIENCE;
Keywords:
G6PD deficiency; phenotype; genotype;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
55
Recensione:
Indirizzi per estratti:
Indirizzo: Tannoia, N Univ Bari, Policlin, Chair Hematol 2, Piazza Giulio Cesare 11, I-70124 Bari, Italy Univ Bari Piazza Giulio Cesare 11 Bari Italy I-70124 ri, Italy
Citazione:
A. Pietrapertosa et al., "Genotype and phenotype correlation in glucose-6-phosphate dehydrogenase deficiency", HAEMATOLOG, 86(1), 2001, pp. 30-35

Abstract

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 (<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. Interpretation and 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. (C) 2001, Ferrata Storti Foundation.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/01/20 alle ore 12:32:59