Targeted exome sequencing resolved complex serology problems and defined both novel blood group alleles (CD55:c.203G>A, ABCB6:c.1118_1124delCGGATCG, ABCB6:c.1656-1G>A, and RHD:c.452G>A) and rare variants on blood group alleles associated with altered phenotypes. This study illustrates the utility of exome sequencing, in conjunction with serology, as an alternative approach to resolve complex cases.

The GP.Hop phenotype is produced by a hybrid GP(B-A-B) protein caused by a DNA insertion of GYPA into GYPB. The composition of the hybrid protein is GPB(1-26)-GPpsiB(27-50)-GPA(51-58)-GPB(S)(59-103).

The array of RHD variants detected in this study indicated diversity in the Australian donor population that needs to be accommodated for in future genotyping strategies.