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.