Background: The first report of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Saudi population of the Eastern Province paved the way for extensive investigations to determine the distribution and molecular pathogenesis of G6PD deficiency in Saudis in different parts of the country.
Materials and methods: During a national study lasting from 1982 to 1993, 24,407 Saudis in 31 different areas of Saudi Arabia were screened for G6PD deficiency using spectrophoretic estimation of the enzyme activity and electrophoretic separation of the phenotypes.
Results: The results in the males and females were separately analyzed, and showed a statistically significant difference in the frequency in the male (0.0905) and female (0.041) population (P<0.05). The frequency in the male varied from 0 to 0.398, and in the female from 0 to 0.214. The phenotypes identified included G6PD-A(+), G6PDA-Mediterranean and G6PD-A(-), and G6PD-Med-like with G6PD-B(+) as the normal phenotype in all areas.
Conclusion: This study shows that G6PD deficiency is a frequently identified single-gene disorder in Saudi Arabia and G6PDA-Mediterranean is the major variant producing the severe deficiency state in this population.