Two novel glucose-6-phosphate dehydrogenase variants found in newborn mass-screening for galactosaemia

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessiv e disorder in which haemolytic anaemia is the major symptom. The Beutler sp ot test employed in mass-screening for galactosaemia in newborns requires s everal intrinsic erythrocyte enzymes such as G6PD for its reaction and can theoretically detect G6PD deficiency apart from galactose-1-phosphate uridy ltransferase deficiency. In this study, we detected two patients with G6PD deficiency using the quantitative Beutler test which was recently developed in our laboratory. Both patients lacked erythrocyte G6PD activity but exhi bited no clinical symptoms. Molecular analysis in patients 1 and 2 revealed two novel missense mutations of C853T causing R285C and A1220C causing K40 7T, respectively. Molecular rather than enzymatic analysis was required in familial studies to detect and diagnose the carrier state. To date these pa tients have avoided oxidant stress and haemolytic diatheses have not been i nduced. Conclusion Our results indicate that the quantitative Beutler test can dete ct glucose6-phosphate dehydrogenase deficiency of class 1 and 2 and is ther efore useful for early intervention and prevention of haemolytic diathesis in patients with this disorder.