الفهرس 
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Abstract
β-thalassemias are monogenic disorders usually caused by reduced or absent synthesis of the β-globin chain, one of the main components of adult hemoglobin.
The beta form of thalassemia is particularly prevalent among the Mediterranean peoples, and this geographical association is responsible for its naming. Beta Thalassemia is the most common chronic hemolytic anemia in Egypt (85.1%), with a carrier rate of approximately 10%.The worldwide incidence rate is valued at one per 100,000.
Patients with β-thalassemia major have severe chronic hemolytic anemia and require regular blood transfusions from early childhood. chronic blood transfusion therapy is typically combined with iron chelation therapy (ICT) to prevent complications due to iron overload, such as cardiac morbidity, liver disease, and endocrine dysfunction.
A common clinical problem in patients with thalassemia major treated with blood transfusions is iron overload. Each blood unit contains 200 to 250 mg of iron. Iron accumulation in the cell induces reactive oxygen species production, apoptosis, necrosis, and inflammation.
Iron is essential to numerous biological processes, such as cellular respiration and oxygen transport. Iron homeostasis must be maintained to avoid iron overload and iron deficiency, which can have severe consequences.
Hepcidin, a key element in iron hemostasis, is a small antimicrobial peptide and encoded by the HAMP gene. It is a 25-amino-acid peptide hormone secreted by hepatocytes. Hepcidin negatively regulates the main iron flows that enter the plasma compartment: the absorption of dietary iron in the duodenum, the release of recycled iron from macrophages, and the release of stored iron from hepatocytes
Hepcidin synthesis is up-regulated by iron overload and inflammation leading to reduced iron availability, and down-regulated by iron deficiency anemia, erythropoiesis and hypoxia, thereby better meeting iron requirements during erythrocyte production.
Erythroferrone (ERFE) is described as erythroid hormone acting on iron metabolism, encoded in humans by the FAM132B gene and produced by erythroid precursors in the bone marrow and spleen under the government of the renal erythropoietin. ERFE represses hepcidin production, with a consequent regain of function of ferroportin which is responsible for increasing intestinal iron absorption and mobilization of iron from stores.
The aim of this study is to asses hepcidin and erythroferrone predictive value according to iron overload status, severity of anemia, transfusion frequency and its impact on disease severity and comorbidities in Egyptian beta thalassemia major patients.
This study included 60 patients diagnosed as beta thalassemia major (group A) in addition to 30 apparrantely healthy adults as controls (group B). β-thalassemia major patients are further subdivided based on serum ferritin level in this current study at cutoff of 2000.8 ng\ ml into 2 subgroups, group A1 for 30 patients with insignificant iron overload (ferritin level <2000.8) and group A2 for 30 patients with significant iron overload (ferritin level >2000.8).
- All studied subjects were subjected to the following: Full history taking, thorough clinical examination, ultrasonographic examination of the abdomen and ECHO for the patients only.