Pathophysiology of alpha- and beta-thalassemia: therapeutic implications.

At the molecular level, the underlying cause of thalassemia is any of a number of genetic lesions that reduce or abolish the production of the globin chains of hemoglobin. The resulting chain imbalance is the key factor initiating the damage to the red blood cell (RBC) and it is the major pathophysiological event in all forms of the thalassemia syndromes. In this review we will outline some of the cellular and systemic processes that have been implicated in the development of the disease. When relevant, we will discuss the ways in which these processes can be altered in a therapeutic manner. Copyright 2001 by W.B. Saunders Company.