c.5del mutation on the ABO*B.01 allele responsible for Bx phenotype

Identification of a novel c.77T>G mutation on the ABO*B.01 allele associated with a B subtype

“…Aberrant expression of ABO antigens should be identified to prevent transfusion reactions or ABO‐incompatible transplantations 2 . In addition to alleles giving rise to normal ABO phenotypes, numerous variant alleles showing an aberrant ABO expression have been identified 3–5 . In this report, the proband was discovered during the perinatal examination, without any underlying disease and blood transfusion history.…”

“…2 In addition to alleles giving rise to normal ABO phenotypes, numerous variant alleles showing an aberrant ABO expression have been identified. [3][4][5] In this report, the proband was discovered during the perinatal examination, without any underlying disease and blood transfusion history.…”