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A Bombay individual lacking H and Le antigens but expressing normal levels of α‐2‐ and α‐4‐fucosyltransferases
Author(s) -
Shechter Y.,
Etzioni A.,
Levene C.,
Greenwell P.
Publication year - 1995
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1046/j.1537-2995.1995.35996029164.x
Subject(s) - fucosyltransferase , saliva , phenotype , fucose , antigen , immunology , biology , medicine , microbiology and biotechnology , genetics , biochemistry , enzyme , glycoprotein , gene
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. CASE REPORT: 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. CONCLUSION : 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.