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Marked decline of favism after neonatal glucose-6-phosphate dehydrogenase screening and health education: the Northern Sardinian experience
Favism is a potentially fatal manifestation of glucose-6-phosphate dehydrogenase (G6PD) deficiency, and it is therefore a public health problem in areas where this genetic abnormality is common. In the district of Sassari (northern Sardinia), the frequency of G6PD male hemizygotes is approximately 7.5%, and therefore all newborns since 1971 have been screened for G6PD deficiency. We have analyzed the incidence of favism in this community in two 10-year periods: (1) 1961-1970; and (2) 1981-1990. In period 1, there were 508 cases of favism, of which 76% occurred in boys. In period (2) there were 144 cases of favism, of which only 52% in boys. Thus, between the two periods there was an overall decrease in the incidence of favism of 75%, whereas the proportion of girls affected has approximately doubled. These data suggest that neonatal screening and health education programs can produce a substantial decrease in the number of cases of favism, and that the relative increase in favism in girls is possibly due to failure of the screening method used to detect all the heterozygotes for G6PD deficiency
Glucose-6-phosphate dehydrogenase deficiency and bacterial infections in Northern Sardinia
Increased prevalence of glucose-6-phosphate dehydrogenase deficiency in patients with cholelithiasis
The glucose-6-phosphate dehydrogenase (G6PD) enzyme activity was determined in 299 Northern Sardinian patients with cholelithiasis. Sixteen (12.80%) of the 125 male patients studied were G6PD deficient; 33 (18.96%) of the 174 females were heterozygous and 1 (0.57%) homozygous. Thus, the prevalence of G6PD deficiency in male subjects with cholelithiasis is about 35% higher (p less than 0.02) than that of a normal male control group (7.29%). As regards female patients, the incidence of the GdMed allele was also significantly different (p less than 0.05). Thus, G6PD-deficient subjects may have a predisposition to develop gallstones, even in the absence of clinical signs of chronic hemolysis
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