The purpose of this article is to set forth our approach to diagnosing and managing the thalassemias, including ?-thalassemia intermedia and ?-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 ?-thalassemia.
How I treat thalassemia
שנת פרסום ראשונה: 2011
שנת עדכון:
מפרסם: Blood Journal