title: A Bombay individual lacking H and Le antigens but expressing normal levels of alpha-2- and alpha-4-fucosyltransferases.
abstract: BACKGROUND
  The rare Bombay phenotype is usually due to a primary genetic defect in an alpha-2- or alpha-4-fucosyltransferase. The present study was done to investigate a patient with normal transferases, who exhibits the Bombay phenotype.
  
  
  METHODS
  Red cells of the patient, his parents, and siblings were phenotyped for A, B, and H antigens. The presence of B, H, and Le transferases in serum and saliva was measured.
  
  
  RESULTS
  The parents and siblings were all group B, Le(a-b-). The propositus was typed as Oh, Le(a-b-). His serum contained anti-A, anti-B, and anti-H. Normal levels of B, H, and Le transferases were found in all family members including the patient.
  
  
  CONCLUSIONS
  In an unusual case, a person has the Bombay phenotype, but normal levels of transferases in serum and saliva. A general defect in fucose metabolism seems to be the primary abnormality in this case.
authors.affiliation: Blood Bank, Rambam Medical Center, Haifa, Israel.
authors.forename: Y
authors.initials: Y
authors.lastname: Shechter
authors.forename: A
authors.initials: A
authors.lastname: Etzioni
authors.forename: C
authors.initials: C
authors.lastname: Levene
authors.forename: P
authors.initials: P
authors.lastname: Greenwell
mesh_terms: D000017:ABO Blood-Group System; D002648:Child; D005260:Female; D005647:Fucosyltransferases / Q000032:analysis / Q000097:blood*; D006801:Humans; D007983:Lewis Blood Group Antigens; D008297:Male; D010375:Pedigree; D010641:Phenotype; D012463:Saliva / Q000201:enzymology
chemical_list: D000017:ABO Blood-Group System; D007983:Lewis Blood Group Antigens; D005647:Fucosyltransferases