Glucose-6-Phosphate Dehydrogenase Deficiency: An Overview of the Prevalence and Genetic Variants in Saudi Arabia

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common inherited metabolic abnormality of red blood cells (RBCs), affecting 400 million individuals worldwide. Patients with G6PD deficiency anemia might exhibit severe clinical manifestations, including acute hemolytic anemia (AHA), neonatal hyperbilirubinemia (jaundice), favism, and chronic non-spherocytic hemolytic anemia (CNSHA). The aim of the current review is to report the prevalence and genetic variants of G6PD deficiency anemia in Saudi Arabia. The scientific literature was reviewed for reports on G6PD deficiency in Saudi Arabia. The incidence rate of G6PD deficiency is very high in Saudi Arabia and varies from Province to Province. As reported by the Ministry of Health, the prevalence of G6PD deficiency in Saudi Arabia is 8.4% among males. The pattern and distribution of the genetic mutations also vary. Some of the genetic mutations of G6PD deficiency have been associated with clinical manifestations including hemolysis, especially in neonates. Several studies have reported known common variants such as Mediterranean and A-, as well as rare variants such as Nara, Sibiri, and Viangchan in the Saudi population. Early detection, characterization, and understanding of the phenotypic and molecular patterns of G6PD deficiency in Saudi Arabia are needed for better management and control of the disease. Thus, neonatal screening for G6PD deficiency, family counseling, and public awareness of the disease should be established.