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Novel RHD variant causing RhD negative phenotype identified in a pregnant woman

The RHD and RHCE genes govern one of the most clinically important blood group systems and are highly polymorphic. New RHD variant alleles, influencing qualitative and quantitative D antigen expression on red blood cells (RBCs), are continuously detected by using molecular technologies in combination with serological testing. Homozygosity for a total deletion of RHD is the most common cause of RhD negative phenotype; however, numerous genetic mechanisms including singlenucleotide substitutions, splice-site mutations, insertions and RHD/RHCE hybrids may produce non-functional RHD genes resulting in RhD negative phenotype. Herein, we report a novel presumed RHD null allele found in a pregnant woman. The variant was identified early in pregnancy when performing blood typing, antibody screening, and fetal RHD screening as part of the national program for maternal care centers in Sweden.