Haemoglobin Radcliffe (α2β299(G1)Ala): A High Oxygen-Affinity Variant Causing Familial Polycythaemia |
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| Authors: | D. J. Weatherall,J. B. Clegg,S. T. Callender,R. M. G. Wells,R. E. Gale,E. R. Huehns,M. F. Perutz,&dagger G. Viggiano,&Dagger C. Ho,&Dagger |
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| Affiliation: | Nuffield Department of Clinical Medicine, University of Oxford, The Radcliffe Infirmary, Oxford;Department of Clinical Haematology, University College Medical School, London;M.R.C. Laboratory of Molecular Biology, Cambridge;Department of Life Sciences, University of Pittsburg, Pittsburg, Pennsylvania, U.S.A. |
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| Abstract: | Three members of an Oxfordshire family have polycythacmia. In each case their whole-blood oxygen affinity is increased. This is due to a previously undescribed haemoglobin variant which has been named haemoglobin Radcliffe (α2β299(G1)Ala). In addition to having a high oxygen affinity haemoglobin Radcliffe shows virtually no haem-haem interaction and a diminished Bohr effect. It is synthesized at the same rate and is as stable as haemoglobin A. X-ray analysis indicates that crystals of deoxyhaemoglobin Radcliffe are isomorphous with those of deoxyhaemoglobin A. Solutions of haemoglobin Radcliffe were also studied by high-resolution proton nuclear magnetic resonance spectroscopy. The structure/function relationships of haemoglobin Radcliffe are discussed in the light of these studies. |
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