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Current trends in the diagnosis and management of haemoglobinopathies

Current trends in the diagnosis and management of haemoglobinopathies


Scand J Clin Lab Invest 2007; 67: 1–2 EDITORIAL Current trends in the diagnosis and management of haemoglobinopathies D. J. WEATHERALL Weatherall Institute of Molecular Medicine, University of Oxford The inherited disorders of haemoglobin, or haemoglobinopathies, are the commonest monogenic diseases. Although they reach their highest frequency in the populations of tropical countries, due to population movements they are now encountered in almost every country of the world. Although there are hundreds of inherited variants in the structure or synthesis of haemoglobin, only three groups, alpha and beta thalassaemia and the sickle-cell disorders, cause a significant public health problem [1]. Over the last 40 years a great deal has been learned about the pathophysiology and molecular pathology of the haemoglobinopathies and there have been major advances in their control and management, at least in the developed countries. There are, however, two major problems which have to be overcome for the development of programmes for the control of the haemoglobinopathies. First, even within individual countries their distribution is extremely heterogeneous. Second, like all monogenic diseases the haemoglobinopathies show remarkable phenotypic variability, even in those who inherit the same mutation. There is increasing evidence that the high frequency of the
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