title: The Rhnull phenotype in an English individual: haematological, serological and immunological studies.
abstract: We have characterized the first case of Rhnull phenotype to be identified in England. The red cells were serologically negative for C, c, Cw, D, E, e, f, hr B, Rh17, Lw a, Lw ab and Duclos, while the patient's serum contained anti-Rh29, which was subsequently boosted by transfusion. The Rh phenotype of the patient's son (R1r) confirmed that this was a regulator type of Rhnull in the patient. Follow up studies confirmed the presence of a mild chronic anaemia with stomatocytes and spherocytes; electron microscopy revealed the presence of cells with deep central indentations. Osmotic fragility was increased to a level intermediate between normal and hereditary spherocytic controls. The presence of ongoing haemolysis was indicated by a mild reticulocytosis and splenomegaly. The potent anti-Rh29 has made the provision of compatible blood difficult and autologous units have been frozen. The case illustrates the rare phenomenon of the Rhnull phenotype which not only causes problems for the transfusionist but should also be recognized as a cause of haemolytic anaemia secondary to a membrane defect. Blood film and Rh phenotyping are useful preliminary investigations in suspected cases.
authors.affiliation: Department of Haematology, Northern General Hospital, Sheffield, UK.
authors.forename: J A
authors.initials: JA
authors.lastname: Snowden
authors.forename: J
authors.initials: J
authors.lastname: Poole
authors.forename: A J
authors.initials: AJ
authors.lastname: Bates
authors.forename: M
authors.initials: M
authors.lastname: Faulkner
authors.forename: V
authors.initials: V
authors.lastname: Day
authors.forename: D
authors.initials: D
authors.lastname: Booker
authors.forename: R J
authors.initials: RJ
authors.lastname: Sokol
authors.forename: J T
authors.initials: JT
authors.lastname: Reilly
mesh_terms: D000368:Aged; D001788:Blood Grouping and Crossmatching; D004739:England; D004909:Erythrocyte Indices; D004912:Erythrocytes / Q000737:chemistry / Q000166:cytology / Q000648:ultrastructure; D005260:Female; D005500:Follow-Up Studies; D006454:Hemoglobins / Q000378:metabolism; D006801:Humans; D015151:Immunoblotting; D007518:Isoantibodies / Q000235:genetics / Q000276:immunology; D008855:Microscopy, Electron, Scanning; D010641:Phenotype; D012204:Rh-Hr Blood-Group System / Q000097:blood / Q000235:genetics* / Q000276:immunology
chemical_list: D006454:Hemoglobins; D007518:Isoantibodies; D012204:Rh-Hr Blood-Group System