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History of genetic disease

Thalassaemia: the long road from bedside to genome

Nature Reviews Genetics volume 5, pages 625–631 (2004)Cite this article

Abstract

The evolution of research into inherited haemoglobin disorders posed some fascinating questions for historians of the medical sciences in the twentieth century. Of particular interest is how the study of what initially seemed to be a group of rare genetic anaemias turned out to be the forerunner of a new era of medical science. For, in effect, it was the description of their molecular basis that led to the idea of 'molecular disease', and, later, to 'molecular medicine' — a change of emphasis from the characterization of illness in patients and their organs to a description of its pathology at the level of cells and molecules.

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Figure 1: An early clinical study of thalassaemia in Asia.
Figure 2: I. Bianco and E. Silvestroni in their laboratory in Rome.
Figure 3: Family pedigree of thalassaemia.

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Acknowledgements

I thank L. Rose for her assistance on this paper and the Leverhulme Trust for support.

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  1. Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, OX3 9DS, Oxford, UK

    David J. Weatherall

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Weatherall, D. Thalassaemia: the long road from bedside to genome. Nat Rev Genet 5, 625–631 (2004). https://doi.org/10.1038/nrg1406

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