Introduction Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is a common human enzyme deficiency. Molecular abnormalities data from Egypt are scarce, and have not been extensively investigated. To fill this gap, we investigated the frequency of the presence of certain known G6PD mutations among Egyptian patients with G6PD-deficiency. 

Methods DNA was extracted from 50 G6PD-deficient unrelated male subjects. We have analyzed the G6PD gene mutations in those with a history of favism by using the appropriate PCR- restriction enzyme digestion technique (PCR/RFLP analysis). 

Results The G6PD Mediterranean mutation was found in 16 patients (32%). The African A-variant (202 G→A & 376 A→G) were detected in 5 (10%) G6PD-deficient patients, the Chatham variant was detected in 2 (4%) of the patients and the Aures variant was not detected in any of the patients. Enzymatic activity was shown to be a poor predictive parameter of acute hemolytic crisis and was not correlated with clinical features. 

Conclusion The findings suggest that gene flow from the Indian subcontinent, sub-Saharan African, and other parts of the Mediterranean may have contributed to the observed G6PD mutations seen in the Egyptian population. The PCR-RFLP technique can be used for rapid molecular screening of the to ndividual variability. As a result, cases can be misdiagnosed, but in patients who have other mutations in the G6PD gene, these should be subjected to direct sequencing, in an attempt to fully characterize their genotypes and to search for other novel mutations.