Pathogenic Mechanisms in Thalassemia I: Ineffective Erythropoiesis and Hypercoagulability

Abstract

Erythropoiesis is the physiological process that results in the production of red blood cells (RBCs). In conditions of pathologically altered erythropoiesis or ineffective erythropoiesis, as in the case of β-thalassemia, the reduced ability of erythrocytes to differentiate, survive and deliver oxygen stimulates a state of stress that leads to the ineffective production of RBCs. We herein describe the main features of erythropoiesis and its regulation in addition to the mechanisms behind ineffective erythropoiesis development in β-thalassemia. Finally, we review the pathophysiology of hypercoagulability and vascular disease development in β-thalassemia and the currently available prevention and treatment modalities.

Keywords: Coagulopathy; Hypercoagulability; Ineffective erythropoiesis; Silent cerebral infarcts; Thrombosis; Vascular disease; β-Thalassemia.