Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency in Greek newborns: the Mediterranean C563T mutation screening.
Glucose-6-Phosphate Dehydrogenase (G6PD) gene is located at the X-chromosome at Xq28 and the disease is recessively inherited predominantly in males. More than 400 variants have been proposed based on clinical and enzymatic studies. The aim of the current study was to identify C563T mutation in G6PD-deficient newborns and to correlate the enzyme residual activity with the presence of the mutation. Some 1189 full-term neonates aged 3-5 days old were tested for G6PD activity in dried blood spots from Guthrie cards using a commercial kit. DNA extraction from Guthrie cards and mutation identification among the deficient samples were performed with current techniques. A total of 92 (7.7%) newborns were G6PD-deficient. In 46 (50%), the mutation C563T was identified. The residual activity in C563T hemizygote males (n = 28) was statistically significantly lower (1.23 ± 0.93 U/g Hb) than that in non-C563T G6PD-deficient males (n = 25) (4.01 ± 1.20 U/g Hb, p < 0.0001) and in controls (13.6 ± 2.9 U/g Hb, p < 0.0001). In C563T heterozygote females, the estimated enzyme activity was lower than that determined in non-C563T females. Male C563T hemizygotes suffer from G6PD deficiency and severe neonatal jaundice. G6PD activity showed statistically significant correlation with total bilirubin blood levels.
Laboratory of Prenatal and Neonatal Screening , Neoscreen Ltd , Athens.
Elina
E
Molou
Kleopatra H
KH
Schulpis
Georgia
G
Thodi
Vassiliki
V
Georgiou
Yannis
Y
Dotsikas
Konstantinos
K
Papadopoulos
Sofia
S
Biti
Yannis L
YL
Loukas
D001663:Bilirubin / Q000097:blood; D059788:Dried Blood Spot Testing; D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000097:blood / Q000235:genetics; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D006115:Greece / Q000453:epidemiology; D057898:Hemizygote; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D015997:Neonatal Screening; D017354:Point Mutation; D012737:Sex Factors
D005954:Glucosephosphate Dehydrogenase; D001663:Bilirubin