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

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.