Unusual Phenotype Expression in a Cis-AB Trait: Cis-AB Child from a Group A Father and a Group O Mother / 대한수혈학회지

ABSTRACT

Cis-AB (A2B3) is a rare genotype resulting from the inheritance of both A and B genes on one chromosome. Among possible genotypes of cis-AB, in individuals with O/cis AB and A1/cis-AB, the B antigen is usually weakly expressed. Study on a blood sample from a 13-year-old Korean girl showed a discrepancy between red blood cell and serum typing. The blood type was identified as AweakB on the red cell test, while weak anti-B was detected in the serum. Cis-AB (A2B3) was suspected, however, known blood types of her father and mother were A and O, respectively. In the repeated test, the propositus was typed as group A2B3. Her mother was typed as normal group O. Her father was typed as group A1 in cell typing, but in his serum, anti-B was very weakly detected. In the saliva test and adsorption and elution studies of the father, B substance was not detected. Finally, ABO genotyping was performed and ABO genotypes of the patient, mother and father were cisAB/O, O/O and cisAB/A1, respectively. This was the first reported case of A1/cisAB with phenotype A1. ABO genotyping technique will resolve problems encountered in association with unusual phenotype expression of cis-AB trait.