title: Haemoglobin Radcliffe (alpha2beta299(Gi)Ala): a high oxygen-affinity variant causing familial polycythaemia.
abstract: Three members of an Oxfordshire family have polycythaemia. 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 (alpha2beta299(Gl)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.
mesh_terms: D000328:Adult; D000596:Amino Acids / Q000032:analysis; D002648:Child; D004592:Electrophoresis, Starch Gel; D005260:Female; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000378:metabolism; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008875:Middle Aged; D010101:Oxygen Consumption; D011086:Polycythemia / Q000209:etiology / Q000235:genetics*
chemical_list: D000596:Amino Acids; D006455:Hemoglobins, Abnormal