Background
Oxidative stress plays a pivotal role in the pathophysiology of sickle cell disease (SCD) and its associated disease complications. Superoxide Dismutases (SODs) are protective enzymes against oxidative stress. SOD2 deficiency
Conclusion
SOD2 Val16Ala polymorphism was associated with low serum SOD2 level that may predict disease severity.
Methods
Genotyping SOD2 Val16Ala polymorphism by TaqMan allelic discrimination assay for hundred SCD patients and a hundred age-sex matched healthy controls revealed the genotypic and allelic frequencies of the studied polymorphism in the SCD patients were close to that of the controls.
Objective
The current study was designed to determine the effect of SOD2 Val16Ala gene polymorphism (rs4880) on SOD2 level and their possible impact on SCD disease severity in a cohort of Egyptian SCD patients.
Results
Serum SOD2 level was significantly lower in those having the polymorphic genotypes (p=0.005). SOD2 level inversely correlates with the annual rate of hospitalization (r=-0.023, p= 0.038).