Investigating The Impact of Catalase Gene Polymorphism Rs7943316 on Beta-Thalassemia Major Susceptibility in An Iraqi Patient

Beta-thalassemia major (β-TM) is a severe genetic blood disorder prevalent in regions including the Mediterranean, Middle East, and parts of Asia, marked by impaired synthesis of the beta-globin chain of hemoglobin. This leads to significant health complications such as chronic anemia, iron overload, and increased oxidative stress in patients. This study investigated the potential role of the rs7943316 polymorphism in the catalase gene in the pathophysiology of β-thalassemia major in Iraq. Between October 2023-January 2024, 105 blood samples were collected from 60 β-thalassemia patients on iron therapy for at least two years and 45 healthy controls. This study compared the demographic characteristics of the control and β-TM patients. The study found significant differences in hemoglobin and ferritin levels between the groups and significant variation in human catalase. Patients with β-TM exhibited elevated levels (225 ± 121 KU/L) compared to the control group (85.2 ± 18.6 KU/L), with a p-value of less than 0.0001. The study found no significant correlation between the rs7943316 polymorphism and an increased risk or severity of β-thalassemia in the studied population. Catalase serum levels were significantly higher in β-thalassemia patients than in controls, suggesting that this polymorphism does not significantly contribute to clinical variability or risk.