Divergence in phenotyping and genotyping analysis of the Lewis histo-blood group system.

Abstract

This study evaluated the red blood cell (RBC) Lewis phenotypes by simple haemagglutination technique and molecular genotyping in healthy individuals. The expression of Lewis antigen on RBCs is dependent on the interaction of FUT3 and FUT2 genes. Complexity of the genetic control of Lewis antigen expression and the error-prone nature of Lewis phenotyping result in non-genuine RBC Lewis phenotypes, which could be misleading. ABO blood group and RBC Lewis phenotypes were determined by conventional haemagglutination tube techniques. FUT2 and FUT3 genotypes were analysed by polymerase chain reaction and direct DNA sequencing. The RBC Lewis phenotypes were also inferred from the FUT2 and FUT3 genotyping results. The frequencies of RBC Lewis phenotypes typed by the conventional tube test were Le(a+b-) 19.63%, Le(a-b+) 49.32% and Le(a-b-) 31.05%, whereas the frequencies inferred from the FUT2 and FUT3 genotypes were Le(a+b-) 20.09%, Le(a-b+), 59.82%; Le(a-b-), 17.81%; and Le(a+b+), 5 (2.28%). The Le(a+b+) phenotype was not detected by the tube test, and a significant difference was observed in the frequencies of the determined Le(a-b-) and Le(a-b+) phenotypes. The phenotyping and genotyping of Lewis blood group system reveal a high rate of discordance in the frequencies of Lewis phenotypes among the healthy individuals.