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. 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.
journal_name
Transfusionjournal_title
Transfusionauthors
Shechter Y,Etzioni A,Levene C,Greenwell Pdoi
10.1046/j.1537-2995.1995.35996029164.xsubject
Has Abstractpub_date
1995-09-01 00:00:00pages
773-6issue
9eissn
0041-1132issn
1537-2995journal_volume
35pub_type
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