Ninth Cooley's Anemia Symposium: summary and perspective.

The Ninth Cooley's Symposium provided an outstanding summary of progress in the field. Highlights of the conference included the report of clinical benefit in one of two patients treated in a gene therapy trial. Another major breakthrough was the report that the transcriptional factor, BCL11A, is a key molecular component of the gamma-globin silencing mechanism that results in the fetal to adult perinatal switch. The ability to evaluate tissue iron is becoming increasingly more sophisticated, with results presented at this conference indicating that independent measurement of cardiac ferritin and hemosiderin can be achieved with specific MRI sequences. The three available iron chelators, deferoxamine, deferiprone, and deferasirox, provide a potent therapeutic armamentarium so that effective chelation regimens can be devised for most individual patients. Unfortunately, compliance remains a significant issue despite the availability of oral chelators. Modification of conditioning regimens and the use of alternative donor sources have made stem cell transplantation available to an increasing number of patients with progressive improvement in outcome. Despite many advances, the global burden of disease for the thalassemias remains very high, with many challenges that still need to be addressed in order to optimize treatment for the majority of patients.