Complex inversion and recombination in RH genes
Phenotype D-- is associated with severe hemolytic transfusion reactions and hemolytic disease of the fetus and newborn. It is typically caused by defective RHCE genes. We conducted a comprehensive analysis using Pacific Biosciences long-read target sequencing, Bionano optical genome mapping, and targeted next-generation sequencing and identified two novel recombinant RHCE haplotypes in a D-- phenotype proband and verified RH phenotypes of other six family members.