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.
The new Fourth Edition contains Colour illustrations of patients, blood films and tissue sections Completely new sections on the syndromes of a thalassaemia and mental retardation, molecular pathology, population genetics, the ethical issues raised by programmes for population control, and a new section on experimental forms of treatment which may be of relevance in the future A greatly expanded section on the management of thalassaemia Extensive tables of the interactions of the different thalassaemia alleles An appendix providing the addresses of thalassaemia societies in countries throughout the world Thalassaemia Syndromes is a unique reference that is devoted entirely to the different forms of thalassaemia. It provides an extensive bibliography of reference to all the original descriptions of the different thalassaemia interactions and will provide an indispensable reference source for clinicians and laboratory technical staff investigating these disorders.