Prospects for research in hematologic disorders: sickle cell disease and thalassemia.

摘要

Sickle cell anemia and thalassemia constitute the most common genetic diseases in the world. Affected patients carry a heavy burden of morbidity and early mortality. With improved understanding of the pathophysiology and molecular basis of these diseases, treatment is evolving from management of symptoms to more effective strategies that aim to modify diseased red blood cells or replace them with normal cells. Available treatment options include red blood cell transfusions, pharmacologic interventions to increase fetal hemoglobin levels, and stem cell transplantation. Improvements in these approaches or the development of means to replace defective genes with normal ones using techniques of gene transfer offer hope for the future.