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His research concentrated on the genetics of the haemoglobinopathies and, in particular, a group of inherited haematological disorders known as the thalassemias that are associated with abnormalities in the production of globin, the protein component of haemoglobin. Weatherall was one of the world's experts on the clinical and molecular basis of the thalassemias and the application for their control and prevention in developing countries.
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