Analysis of microRNA-451 gene expression and its association with liver function tests in β-thalassemia major

Abstract Introduction : Major β-thalassemia is a severe hereditary anemia caused by defective β-globin production and characterized by a permanent transfusion requirement, which leads to an overload of systemic iron and subsequent liver dysfunction. MicroRNA-451 (miR-451) is an erythroid-specific microRNA that plays a critical role in erythropoiesis, oxidative stress regulation, and iron metabolism. Nevertheless, there is still insufficient research on the connection between β-thalassemia major and liver function. Aim : The study aimed to evaluate the expression of miR-451 in Iraqi patients with β-thalassemia major and correlate it with liver function parameters. Materials and methods : This case-control study involved 50 patients diagnosed with β-thalassemia major and 50 healthy individuals serving as controls. Total RNA was extracted from whole blood samples, and the expression levels of miR-451 were quantified using quantitative real-time PCR (qRT-PCR). U6 small nuclear RNA was utilized as the endogenous control for normalization. Hematological indices and liver function parameters, specifically ALT, AST, and total serum bilirubin, were assessed and analyzed statistically. Results : The expression of miR-451 was upregulated significantly in patients in comparison with the controls (≈260-fold increase). The patients had significantly lower levels of hemoglobin and elevated platelet counts ( p ≤0.05). The liver enzymes, ALT and AST, and the total serum bilirubin were significantly increased in the patient group ( p ≤0.01). This study found a positive association between the overexpression of miR-451 and hepatic dysfunction markers. Conclusion : In β-thalassemia major, miR-451 is significantly upregulated, suggesting it could be a biomarker for disease severity and liver function.