The thrombotic spectrum of B-thalassemia

Abstract

B-thalassemia is one of the most common recessive monogenic disorders, characterized by phenotypic diversity, lifelong treatment and severe complications. Apart from anemia, extramedullary erythropoiesis with skeletal deformities, iron overload and organ damage, hypercoagulability with subsequent thromboembolic events (TEE) has also been recognized as a fundamental feature of the disease. The pathophysiological mechanisms involved in TEE include damaged thalassemic RBC membranes as well as platelet and endothelial activation. Additionally, the fluctuation in the severity of the disease and therapeutic choices seem to influence the hemostatic balance in these patients, as transfusion-independence and splenectomy are documented risk factors for TEE. Insufficient data exist for the management and prevention of thrombotic risk in thalassemia and an imperative need to develop explicit guidelines emerges. In this review, we provide an insight in the pathophysiology of thrombosis in β-thalassemia, further discussing the available clinical evidence for optimal treatment strategies.