The Thalassaemia Syndromes

The thalassaemias, the commonest single-gene diseases, are a heterogeneous family of inherited disorders of haemoglobin. In many countries they constitute a major public health problem and are a severe drain on medical resources. Thalassaemias were among the first diseases to be studied at the molecular level and much is now known about the genetic basis for their remarkable clinical variability. Hence their study has provided a model for understanding the clinical diversity of monogenic diseases in general.

The new fourth edition of this highly-acclaimed book has been completely rewritten and re-organized to provide a detailed review of the entire thalassaemia field, including the structure and genetic control of normal haemoglobin, the molecular pathology of the different forms of thalassaemia, a description of their clinical features and their interactions with different haemoglobin variants, and a full description of their population control, diagnosis, and management.