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Advances in Hematology
Volume 2010, Article ID 938640, 7 pages
Review Article

𝛽 -Thalassemia: HiJAKing Ineffective Erythropoiesis and Iron Overload

Weill Cornell Medical College, Department of Pediatrics, Division of Hematology-Oncology, 515E 71st street, S702, New York, NY 10021, USA

Received 25 November 2009; Accepted 28 February 2010

Academic Editor: Elizabeta Nemeth

Copyright © 2010 Luca Melchiori et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


𝛽 -thalassemia encompasses a group of monogenic diseases that have in common defective synthesis of 𝛽 -globin. The defects involved are extremely heterogeneous and give rise to a large phenotypic spectrum, with patients that are almost asymptomatic to cases in which regular blood transfusions are required to sustain life. As a result of the inefficient synthesis of 𝛽 -globin, the patients suffer from chronic anemia due to a process called ineffective erythropoiesis (IE). The sequelae of IE lead to extramedullary hematopoiesis (EMH) with massive splenomegaly and dramatic iron overload, which in turn is responsible for many of the secondary pathologies observed in thalassemic patients. The processes are intimately linked such that an ideal therapeutic approach should address all of the complications. Although 𝛽 -thalassemia is one of the first monogenic diseases to be described and represents a global health problem, only recently has the scientific community started to focus on the real molecular mechanisms that underlie this disease, opening new and exciting therapeutic perspectives for thalassemic patients worldwide.