A Bombay individual lacking H and Le antigens but expressing normal levels of alpha-2- and alpha-4-fucosyltransferases.
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.
Shechter
Y
Y
Blood Bank, Rambam Medical Center, Haifa, Israel.
Etzioni
A
A
Levene
C
C
Greenwell
P
P
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
D000017:ABO Blood-Group System; D007983:Lewis Blood Group Antigens; D005647:Fucosyltransferases