Thalassemia: an overview of 50 years of clinical research

Abstract

The thalassemias are attributable to the defective production of the α- and β-globin polypeptides of hemoglobin. Significant discoveries have illuminated the pathophysiology and enhanced the prevention and treatment of the thalassemias, and this article reviews many of the advances that have occurred in the past 50 years. However, the application of new approaches to the treatment of these disorders has been slow, particularly in the developing world where the diseases are common, but there is definite progress. This article emphasizes how the increasing knowledge of cellular and molecular biology are facilitating the development of more effective therapies for these patients.