For its frequency and severity β-thalassemia represents a significant health problem in various areas of the world. Progressive iron overload is a common complication of hemoglobinopathies and represents a major cause of morbidity and premature mortality in patients with β-thalassemia.The discovery of hepcidin and its role in iron homeostasis has revolutionized our understanding of the pathogenesis of iron overload and iron-restricted anemias, stimulating the development of new diagnostic and therapeutic modalities for these disorders. However, little is known about the relationship among ineffective erythropoiesis, the role of iron-regulatory genes, and tissue iron distribution in β-thalassemia. The chapter describes evidences for these relationships and discusses how recent discoveries on iron metabolism and erythropoiesis could lead to new therapeutic approaches and better clinical care of these diseases.
Part of the book: Inherited Hemoglobin Disorders