Genetic analysis of the glucose-6-phosphate dehydrogenase deficiency in a Southern Croatia

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common huma n enzymopathy. G6PD Mediterranean is caused by a C --> T transition at nucl eotide 563, is characterized with less than 10% of normal enzyme activity a nd is classified as severe G6PD deficiency. Nineteen unrelated males from S outhern Croatia with severe G6PD deficiency were tested, by enzyme digestio n, for the presence of the Mediterranean mutation. Individuals with G6PD Me diterranean were further screened for the silent C --> T transition at nucl eotide 1311. Four of the nineteen individuals were positive for the Mediter ranean mutation (21%) and all four had the silent mutation.