Abstract
<title>Abstract</title> <p>Background: Beta-thalassemia is a common hemoglobinopathy in India with clinical manifestations ranging from severe transfusion-dependent anemia to asymptomatic carrier states. Chronic transfusions and ineffective erythropoiesis lead to iron overload, oxidative stress, and progressive organ damage, including renal dysfunction. Objective: To evaluate oxidative stress, renal function, and clinical manifestations in β-thalassemia and determine their association with β-globin gene mutations. Methods: A total of 200 anemic individuals (6 months–55 years) were screened using the Mentzer index and high-performance liquid chromatography (HPLC). Based on HPLC, patients were classified as β-thalassemia major, intermedia, or minor. Biochemical analysis included serum ferritin, renal function tests, urine parameters, and oxidative stress markers. Molecular characterization was performed using ARMS-PCR. Associations between genotype and phenotype were analyzed using chi-square tests and odds ratios. Results: β-thalassemia major patients showed significantly higher iron overload, renal injury markers, and oxidative stress compared to other groups. IVS I-5 (G > C) was the most common mutation. The β⁰/β⁰ genotype was strongly associated (p < 0.001) with elevated ferritin, N-acetyl-β-D-glucosaminidase (NAG), and malondialdehyde, along with reduced urine osmolality and glutathione peroxidase activity. Elevated NAG levels were linked to a higher likelihood of the β⁰/β⁰ genotype, while sodium and potassium showed protective associations. Conclusion: β-globin gene mutations significantly influence oxidative stress and renal dysfunction in β-thalassemia. NAG may serve as an early biomarker of renal injury, and early genetic screening could improve risk stratification and clinical management.</p>