Genotyping of RHD c.1227G>A allele by melting curve analysis

A novel RHD allele, RHD c.56C>G (p.Thr19Arg), with Del phenotype identified in a Chinese family

“…RHD1227G>A is the most frequent variation in Chinese D‐negative individuals with the entire RHD gene, which is associated with Del phenotype that can be detected only by adsorbing and eluting Anti‐D from the cell surface of the red blood cell 3 . Previous studies suggested that RHD1227A allele is not at risk of alloimmunization to D antigen, therefore antenatal Anti‐D prophylaxis to pregnant women with RHD1227A allele is unnecessary 4,5 . In this study, family pedigree analysis and prediction scores supported that c.56C>G substitution in RHD gene was associated with Del phenotype.…”

“…3 Previous studies suggested that RHD1227A allele is not at risk of alloimmunization to D antigen, therefore antenatal Anti-D prophylaxis to pregnant women with RHD1227A allele is unnecessary. 4,5 In this study, family pedigree analysis and prediction scores supported that c.56C>G substitution in RHD gene was associated with Del phenotype. The proband's Del mother carried RHD*56G allele, but she had no children with positive D phenotype.…”