The molecular basis of thalassemia

Abstract

Studies of the molecular basis of the thalassemias provide a remarkable heterogeneity of molecular mechanisms for their production. These include gene deletions, chain termination mutations, the production of structurally abnormal messenger RNA and the production of fusion genes by abnormal crossing over. No doubt further molecular mechanisms will become apparent over the next few years. The disappointing outcome of this work is that none of these genetic abnormalities seem to be amenable to manipulation for the improved management of the thalassemia disorders. As a by product of this work promising techniques for the antenatal diagnosis of these conditions have been developed. Furthermore, it is clear that the beta thalassemias could be controlled if it were possible to even partially prevent the switch from gamma to beta chain synthesis which occurs during the neonatal period. This seems to be the most promising area for research in the thalassemia field over the next few years.