Erythroferrone: A New Player in β-Thalassemia Major

Abstract

β-thalassemia is group of genetic diseases characterized by deficiencies in β-globin chains synthesis. These defects are extremely heterogeneous and give rise to large phenotypic spectrum, starting from asymptomatic patients to others who require regular blood transfusions to sustain their life. The inefficient synthesis of β-globin results in chronic anemia due to ineffective erythropoiesis (IE). The sequelae of IE are extramedullary hematopoiesis, massive splenomegaly and dramatic iron overload. These effects, in turn, will lead to many secondary pathological changes in β-thalassemic patients. The clinical severity of β-thalassemia major (β-TM) makes its prevention a priority, since successful prevention programs can result in reducing the incidence of β-TM. Several tools had been suggested as possible strategies for screening and carrier detection.