RESUMO
Thalassemias are a group of inherited blood disorders with defective production of hemoglobin. Patients with beta-thalassemia develop iron overload due to increased iron absorption and transfusion therapy. Hepcidin is a hepatic hormone released in case of iron overload to regulate systemic iron homeostasis by inhibiting iron absorption from diet and recycling of iron by macrophages. To determine role of hepcidin in the pathogenesis of iron overload in 13-thalassemia. Setting: Departments of Clinical Pathology, and Pediatrics, Faculty of Medicine, Tanta University, Egypt. 20 patients with beta thalassemia major [TM] included 10 males and 10 females, 20 patients with beta thalassemia intermedia [TI] included 10 males and 10 females and twenty healthy children of matched age and sex were included in this study. We assessed iron overload by measuring serum ferritin, assessed erythropoietic activity by measuring serum erythropoietin levels, and correlated these with urinary hepcidin measurements. We found severe urinary hepcidin deficiency in TI with strong inverse relationship between urinary hepcidin and serum erythropoietin levels in comparison with control group. In contrast, urinary hepcidin levels were elevated in TM with decrease of erythropoietin levels. In addition, serum ferritin level was significantly higher in TM than TI and significantly higher in TM and TI compared with normal control. Hepcidin deficiency may be the key factor allowing excessive iron absorption and iron overload in TI while in TM, chronic hemolysis and frequent blood transfusions may be the main factors that increase iron load