Abstract
Background: Beta-thalassemias (b-thalassemias) are a group of inherited blood disorders caused by reduced or absent synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymp-tomatic individuals. Thalassemia is the commonest hereditary hemolytic anemia in Egypt. Iron overload is a major compli-cation of repeated blood transfusion in patients with thalassem-ia. Soluble Transferrin Receptor (sTfR), one of the main regulators of cellular iron homeostasis, is the truncated form of the tissue receptor.
Aim of Study: This work was conducted to study the pathophysiology of iron overload in children with b-thalassemia intermedia and thalassemia major and explore the possible utility of Soluble Transferrin Receptor (sTfR) for the evaluation of iron overload and ineffective erythropoi-esis in pediatric Egyptian patients with ß thalassemia major, b-thalassemia intermedia and comparing this with the controls.
Patients and Methods: This study was conducted on sixty b-thalassemia patients (30 b-thalassemia major and 30 b-thalassemia intermedia) together with 30 age and sex matched controls. Patients were selected from the outpatient clinics of the Pediatric Hematology Unit and the Inpatients of Pediatric Department; Faculty of Medicine, Beni Suef University Hospital during the year 2017. Patients and control were subjected to clinical evaluation and complete blood count along with serum ferritin and sTfR levels by Enzyme-Linked Immunosorbent Assay (ELIZA) technique.
Results: Both serum ferritin and sTfR levels were signif-icantly higher in patients compared with controls and in patients with thalassemia major compared with those with thalassemia intermedia. Serum ferritin and sTfR levels were significantly positively correlated with patients' age and with each other. Each of them was negatively correlated with age of disease onset, frequency of blood transfusions and with hemoglobin level.
Conclusion: Serum levels of ferritin and soluble transferrin receptor were significantly higher in both thalassemic groups in comparison to control group.