The purpose of this article is to set forth our approach to diagnosing and managing the
thalassemias, including β-
thalassemia intermedia and β-
thalassemia major. The article begins by briefly describing recent advances in our understanding of the pathophysiology of
thalassemia. In the discussion on diagnosing the condition, we cover the development of improved diagnostic tools, including the use of very small fetal
DNA samples to detect single point mutations with great reliability for prenatal diagnosis of homozygous
thalassemia. In our description of treatment strategies, we focus on how we deal with clinical manifestations and long-term complications using the most effective current treatment methods for β-
thalassemia. The discussion of disease management focuses on our use of transfusion
therapy and the newly developed oral
iron chelators,
deferiprone and
deferasirox. We also deal with
splenectomy and how we manage endocrinopathies and cardiac complications. In addition, we describe our use of
hematopoietic stem cell transplantation, which has produced cure rates as high as 97%, and the use of cord blood
transplantation. Finally, we briefly touch on
therapies that might be effective in the near future, including new
fetal hemoglobin inducers and gene therapy.