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Common G6PD variant from Saudi population and its prevalence
1College of Medicine and Medical Sciences, King Faisal University, Dammam, Saudi Arabia.
A study identified the "G6PD Mediterranean" variant in Saudi subjects, revealing a high prevalence of glucose-6-phosphate-dehydrogenase deficiency exceeding 42% in Eastern Province areas. Notably, no favism symptoms were observed despite the deficiency.
Area of Science:
- Biochemistry
- Human Genetics
- Hematology
Background:
- Glucose-6-phosphate-dehydrogenase (G6PD) deficiency is a common genetic disorder affecting red blood cells.
- The Eastern Province of Saudi Arabia has a significant population with potential G6PD deficiency.
- Understanding genetic variants and prevalence is crucial for public health management.
Purpose of the Study:
- To biochemically characterize erythrocyte G6PD in Saudi individuals from Al-Hassa and Al-Qatif.
- To identify specific G6PD variants and determine their prevalence in the studied population.
- To investigate the association between G6PD deficiency variants and clinical manifestations like favism.
Main Methods:
- Biochemical characterization of erythrocyte G6PD was performed on 18 unrelated deficient Saudi subjects.
- Standard World Health Organization (WHO) procedures were employed for the analysis.
- Genetic variant identification and prevalence rates were determined.
Main Results:
- The common genetically determined variant "G6PD Mediterranean" was identified in the studied subjects.
- The prevalence rate of G6PD deficiency in the Al-Hassa and Al-Qatif areas was found to be over 42%.
- None of the subjects exhibited signs of favism, despite the presence of the G6PD Mediterranean variant.
Conclusions:
- The G6PD Mediterranean variant is prevalent in Saudi populations from the Eastern Province.
- A high prevalence of G6PD deficiency exists in these regions, exceeding 42%.
- The absence of favism in subjects with G6PD Mediterranean warrants further investigation into contributing factors.
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