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This text is a resource for practitioners requiring detailed molecular genetic information on the subject of haematological diseases. It focuses on understanding the basis of a disease at the genetic level and correlating disease pathophysiology. Recently enormous progress has been made in our understanding of the molecular genetic basis of many haematological disorders, and such information is already beginning to impact on clinical practice. This book provides haematologists with a concise summary of what is presently known about the genetic basis of monogenic and polygenic haematological disorders. Each disease is reviewed in identical manner: clinical features, etc. The glossary provides a thorough grounding in the fundamentals of genetic terminology and techniques. Aimed primarily at haematologists, this text is also relevant to clinical geneticists and genetic counsellors.