title: Neonatal screening for glucose-6-phosphate dehydrogenase deficiency fails to detect heterozygote females.
abstract: We examined glucose-6-phosphate dehydrogenase (G6PD) deficiency in north-eastern Italian Caucasian neonates detected by neonatal screening, in order to measure the incidence of heterozygote females detected by neonatal screening, and to estimate the near-true total incidence. A total of 85,437 Caucasian neonates, born between January 2000 and December 2001, have been enclosed in the study. The total incidence of the disease, measured by fluorescent method, is 0.9 per thousand; the total incidence, calculated by Hardy-Weinberg law, is 4.8 per thousand. The frequency of missed females is 93% of total females expected with G6PD deficiency; most of them are very likely heterozygous females. The sensitivity of the fluorescent method might be not sufficient to detect all females. Since heterozygote females might develop the symptoms of G6PD deficiency later, these results suggest that the G6PD neonatal screening may not be helpful in preventing disease in females.
authors.affiliation: Department of Paediatrics, Regional Centre of Neonatal Screening for Inborn Errors of Metabolism, University of Verona, Verona, Italy. marco.zaffanello@univr.it
authors.forename: Marco
authors.initials: M
authors.lastname: Zaffanello
authors.forename: Simone
authors.initials: S
authors.lastname: Rugolotto
authors.forename: Giorgio
authors.initials: G
authors.lastname: Zamboni
authors.forename: Rossella
authors.initials: R
authors.lastname: Gaudino
authors.forename: Luciano
authors.initials: L
authors.lastname: Tatò
mesh_terms: D005260:Female; D006580:Genetic Carrier Screening; D005954:Glucosephosphate Dehydrogenase / Q000097:blood*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D007558:Italy / Q000453:epidemiology; D008297:Male; D015997:Neonatal Screening
chemical_list: D005954:Glucosephosphate Dehydrogenase