The Role Of Heme Oxygenase-1 (HMOX1) Gene Expression In Inflammatory Markers, And Lifestyle Factors In Major Beta Thalassemia Patients

Abstract

Beta-thalassemia major (BTM) is a hereditary blood disorder marked by ineffective erythropoiesis, chronic anemia, and iron overload, which contributes to oxidative stress and long-term complications. This study evaluated the diagnostic value of the oxidative stress-responsive gene heme oxygenase-1 (HMOX1), in relation to hematologic and biochemical markers in BTM patients. A total of 60 individuals (40 BTM patients, 20 healthy controls) were assessed via complete blood count, C-reactive protein (CRP), serum ferritin, and HMOX1 gene expression by quantitative PCR. BTM patients exhibited significantly reduced hemoglobin (8.26 g/dL), RBC count (3.1 × 10⁶/μL), hematocrit (25.7%), and plateletcrit (0.152%), along with elevated RDW (19.8%), platelet count (458 × 10³/μL), and PDW (18.7 fL), compared to controls. Ferritin levels were markedly increased (3025 ng/mL vs. 86.5 ng/mL), confirming severe iron overload. While CRP levels were slightly higher in BTM patients (4.52 mg/L vs. 3.17 mg/L), the difference was not statistically significant. In contrast, HMOX1 expression was significantly upregulated (ΔCt 5.91 vs. 9.26), particularly in males and splenectomized patients, indicating heightened oxidative stress. Receiver operating characteristic (ROC) analysis showed moderate diagnostic performance for HMOX1 (AUC ≈ 0.67), outperforming traditional inflammatory markers. No significant associations were found between HMOX1 expression and age, disease duration, or transfusion frequency. These findings support HMOX1 as a promising molecular biomarker for oxidative stress in BTM, with potential utility for identifying high-risk patient subgroups and guiding clinical monitoring.