Glucose-6-phosphate dehydrogenase polymorphism in the Saudi population.

Area of Science:

• Biochemistry
• Human Genetics
• Population Genetics

Background:

• Glucose-6-phosphate dehydrogenase (G-6-PD) deficiency is a common inherited disorder.
• G-6-PD exhibits significant genetic polymorphism in various human populations.
• Understanding G-6-PD heterogeneity is crucial for public health and clinical management.

Purpose of the Study:

• To investigate the polymorphism of Glucose-6-phosphate dehydrogenase (G-6-PD) in different regions of Saudi Arabia.
• To identify and characterize G-6-PD variants based on electrophoretic mobility and enzyme activity.
• To determine the frequency of various G-6-PD phenotypes in the Saudi population.

Main Methods:

• Electrophoretic separation of G-6-PD variants.
• Enzyme activity assays using glucose-6-phosphate.
• Phenotypic analysis of G-6-PD in different Saudi regions.

Main Results:

• G-6-PD-B+ was identified as the most prevalent phenotype.
• G-6-PD-A+ variants were found across all regions with variable frequencies (0.007-0.046).
• High frequencies of variants with reduced G-6-PD activity, including G-6-PD Mediterranean (0.046-0.261 in males) and G-6-PD-A- (0.011-0.028), were detected.

Conclusions:

• The Saudi population exhibits extensive G-6-PD heterogeneity.
• Multiple G-6-PD variants, including those with reduced activity, are prevalent across Saudi Arabia.
• The findings highlight the need for region-specific G-6-PD deficiency screening and management strategies.