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 PCRrestriction
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
common genetic variants of G6PD in our population, especially
since the biochemical characterization has lost its significance due
to individual 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.
Keywords: G6PD |
