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‰ the total incidence, calculated by Hardy–Weinberg law, is 4.8‰. 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.
This is a preview of subscription content, log in via an institution to check access.
References
Kaplan M, Muraca M, Hammerman C, et al. Bilirubin conjugation, reflected by conjugated bilirubin fractions, in glucose-6-phosphate dehydrogenase-deficient neonates: A determining factor in the pathogenesis of hyperbilirubinemia. Pediatrics 1998; 102: 1-6.
Beutler E. G6PD deficiency. Blood 1994; 11: 3613-3636.
Tishkoff SA, Varkonyi R, Cahinhinan N, et al. Haplotype diversity and linkage disequilibrium at human G6PD: Recent origin of alleles that confer malarial resistance. Science 2001; 293: 455-462.
Belsey MA. The epidemiology of favism. Bull WHO 1973; 48: 1.
Missiou-Tsagaraki S. Screening for glucose-6-phosphate dehydrogenase deficiency as a preventive measure: Prevalence among 1,286,000 Greek new-born infants. J Pediatr 1991; 119: 293-299.
Meloni T, Forteleoni G, Meloni GF. Marked decline of favism after neonatal Glucose 6-phosphate dehydrogenase screening and health education: The northern sardinian experience. Acta Haematol 1992; 87: 29-31.
Fiorelli G, Manoussakis C, Sampietro M, Pittalis S, Guglielmino CR, Cappellini MD. Different polymorphic variants of glucose-6-phosphate dehydrogenase (G6PD) in Italy. Ann Hum Genet 1989; 53: 229-236.
Ninfali P, Baronciani L, Ruzzo A, et al. Molecular analysis of G6PD variants in northern Italy: A study on the population from the Ferrara district. Hum Genet 1993; 92: 139-142.
Zaffanello M, Zamboni G, Tatò L. Neonatal screening program for inborn errors of metabolism: A retrospective study from 1978 to 1997 in Northeastern Italy. Ital J Pediatr 2002; 28: 479-483.
Kaplan M, Beutler E, Vreman HJ, et al. Neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenasedeficient heterozygote. Pediatrics 1999; 104: 68-74.
Kaplan M, Hammerman C, Vreman HJ, Stevenson DK, Beutler E. Acute haemolysis and severe neonatal hyperbilirubinemia in glucose-6-phosphate dehydrogenase-deficient heterozygote. J Pediatr 2001
Reclos GJ, Hatzidakis CJ, Schulpis KH. Glucose-6-phosphate dehydrogenase deficiency neonatal screening: Preliminary evidence that a high percentage of partially deficient female neonates are missed during routine screening. J Med Screen 2000; 7: 46-51.
Beutler E. Red cell metabolism: A manual of biochemical methods. New York: Grune & Stratton, 1984.
Stern C. The Hardy-Weinberg law. Science 1943; 97: 137-138.
Mosca A, Paderi M, Sanna A, Paleari R, Cao A, Galanello R. Preliminary experience with the differential pH technique for glucose-6-phosphate dehydrogenase (G6PD) measurement in whole blood: Application to an area with high prevalence of thalassaemia and G6PD deficiency. Haematologica 1990; 75: 397-399.
Meloni T, Forteleoni G, Dore A, Cutillo S. Favism and hemolytic anaemia in glucose-6-phosphate dehydrogenase-deficient subjects in North Sardinia. Acta Haematol 1983; 70: 83-90.
Cladera Serra A, Oliva Berini E, Torrent Quetglas M, Bartolozzi Castilla E. Prevalence of glucose-6-phosphate dehydrogenase deficiency in a student population on the island of Menorca. Sangre (Barc) 1997; 42: 363-367.
Krzely V, Zlodre S, Terzic J, Mestrovic M, Jacsic J, Pavlov N. Prevalence of G-6-PD deficiency in the Croatian Adriatic Coast population. Arch Med Res 2001; 32: 454-457.
Sanna G, Frau F, De Virgiliis S, Piu P, Bertolino F, Cao A. Glucose-6-phosphate dehydrogenase red blood cell phenotype in GdMediterranean heterozygous females and hemizygous males at birth. Pediatr Res 1981; 15: 1443-1446.
Valaes T. Severe neonatal jaundice associated with glucose-6-phosphate dehydrogenase deficiency: Pathogenesis and global epidemiology. Acta Paediatr suppl 1994; 394: 58-76.
Mehta A, Mason PJ, Vulliamy TJ. Glucose-6-phosphate dehydrogenase deficiency. Baillière Clin Haem 2000; 13: 21-38.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Zaffanello, M., Rugolotto, S., Zamboni, G. et al. Neonatal screening for glucose-6-phosphate dehydrogenase deficiency fails to detect heterozygote females. Eur J Epidemiol 19, 255–257 (2004). https://doi.org/10.1023/B:EJEP.0000020445.48298.3f
Issue Date:
DOI: https://doi.org/10.1023/B:EJEP.0000020445.48298.3f