A BOMBAY INDIVIDUAL LACKING H AND LE ANTIGENS BUT EXPRESSING NORMAL LEVELS OF ALPHA-2-FUCOSYL-TRANSFERASE AND ALPHA-4-FUCOSYL-TRANSFERASE

Background: The rare Bombay phenotype is usually due to a primary gene tic defect in an alpha-2- or alpha-4-fucosyltransferase. The present s tudy was done to investigate a patient with normal tranferases, who ex hibits the Bombay phenotype. Case Report: Red cells of the patient, hi s parents, and siblings were phenotyped for A, B, and H antigens. The presence of B, H, and Le transeferases in serum and saliva was measure d. Results: The parents and siblings were all group B, Le(a-b-). The p ropositus was typed as O-h, 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. Conclusion: In an unusual case, a person has the Bombay phenotype, but normal levels of transfe rases in serum and saliva. A general defect in fucose metabolism seems to be the primary abnormality in this case.