The Thalassemia Syndromes and the Hemoglobinopathies

Abstract

Advancements in the understanding of the hemoglobin molecule and its variants have been a driving force for medical and molecular genetics, making hemoglobin one of the best-characterized human proteins. These achievements in discovery and comprehension are indebted to the interplay between clinical and laboratory observations, to the abundance of nonlethal hemoglobin variants, and to the relative ease of obtaining large amounts of protein by simple venipuncture. As always, the productive application of science lags behind the discovery itself; hemoglobinopathies and thalassemia syndromes are no exception. However, each passing decade has held developments that have changed the natural history of these disorders.