Thalassemia: the continued challenge
Nathan DG
Harvard Medical School, Dana-Farber Cancer Institute, Boston,
Mass., USA
This is a time of therapeutic hope and promise in the management
of thalassemia.
I began my efforts in this fascinating field 45 years ago when I
saw my first patient with thalassemia intermedia. No one on the
house or attending staffs believed the diagnosis. They thought this
near 70 year old man, with jaundice, anemia, and intrathoracic and
para spinous masses must have metastatic cancer. But his red cells
were incredibly misshapen. Later, I found the telltale inclusions
in them and became convinced that he had thalassemia. His case and
others like his brought me to the realization that the
pathophysiology of β and α thalassemia is directly
related to the degree of imbalance of the synthesis of α and
β chains of hemoglobin.1 I wish I had been the
first to make that suggestion. [>Read full
article in PDF]