الفهرس 
IntroductionOnly 14 pages are availabe for public view
 |  | from | 253 |  |  |
| | | from | 253 | | |
Abstract
β-thalassemia encompasses a group of diseases characterized by a genetic deficiency in the synthesis of β-globin chains. The defects involved are extremely heterogeneous and give rise to a large phenotypic spectrum, starting with patients that are almost asymptomatic to others in which regular blood transfusions are required to sustain life.
Objective: This study aimed to evaluate the role of erythroferrone in β-TM patients and to correlate its level with hepcidin levels, as well as clinical and laboratory parameters of iron overload.
Subjects and Methods: This necessitated the studying of serum levels of different iron parameters (ferritin, iron, TIBC), calculate TS%, hepcidin and the peripheral ERFE expression in 40 patients with β-TM (group I). The control group (group II) (n=10) who were sex and age-matched healthy subjects. All patients and control groups were subjected to complete history and thorough clinical examination laying stress at the time of last blood transfusion and whether the patient underwent splenectomy or not. Pre-transfusion laboratory investigations include; CBC with peripheral Leishman stain blood films examination, Manual reticulocyte count, hemoglobin separation by HPLC, Serum iron profile followed by estimation of TS%. Also, EFRE gene expression level was analyzed by a real-time polymerase chain reaction, and Serum hepcidin level was measured using enzyme-linked immunosorbent assay technique.
Results: As a result of the inefficient synthesis of β-globin, the patients suffer from chronic anemia due to the resulted ineffective erythropoiesis (IE). The sequelae of IE lead to extramedullary hematopoiesis with massive splenomegaly and dramatic iron overload, which in turn is responsible for many of the secondary pathology observed in thalassemic patients.
Conclusion: So, ERFE can be used as a predictor of the onset of the clinical iron overload. Also, it may hold a promising future molecular target for treating iron overload and anemia in β-TM patients and modify their treatment modalities.