A truism in medical science today, and particularly with regard to genetic disorders of erythropoiesis, is that our understanding of the molecular pathology of these entities has advanced faster than our ability to bridge the gap between increased knowledge and improved therapy. The molecular defects of globin gene expression in the thalassemia syndromes are being unraveled, but genetic and biochemical manipulation and re-engineering are methodologies of the future and not applicable to the transfusion clinics around the world where children with thalassemia are totally dependent on chronic transfusion therapy. Progressive development of iron overload, refractory cardiac failure and inevitable death still occurs in the second or third decade of life.
In March 1975, the Ciba Foundation sponsored a symposium on congenital disorders of erythropoiesis in London. Chaired by Dennis J. Weatherall, MD, of Oxford University and dedicated to the late Frederick Stohlman, Jr, MD, a pioneer in the study