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This is the first part of a three‐part review on haemoglobinopathies, particularly the thalassaemias. We have attempted to present a clear, concise and practical analysis of this medical problem on which much complicated and complex material has been produced. In this article, we describe the incidence, inheritance and genetic abnormalities and make recommendations for investigations of people who may be carriers. It is beyond the scope of this review to cover all the haemoglobinopathies. We only discuss those that are relevant to the thalassaemia syndromes.