Erythrocyte Glucose-6-Phosphate Dehydrogenase Deficiency in Poland - a Study on the 563 and 1311 Mutations of the G6PD Gene

Studies on the mutation 563T and silent mutation 1311^T of the glucose-6-phosphate dehydrogenase (G6PD) gene in Poland were performed in 26 families affected with G6PD deficiency classified - according to WHO - as group 2 G6PD deficiency. Both mutations were found in 19 families, including 17 of Polish origin. Mutation 563^T alone was found in 1 Greek female. The frequency of the silent mutation 1311^T in Polish unaffected controls was 0.10. It is postulated that at least parts of the Polish (or Middle-Eastern European) and Mediterranean populations are of a common origin.