Effects of RHD gene polymorphisms on distinguishing weak D or DEL from RhD− in blood donation in a Chinese population

BACKGROUND: Weak D or DEL red blood cell units may be mistyped as RhD− by current serology assays, which can lead to incompatible transfusion to RhD− recipients and further cause anti‐D immunization. Molecular RHD blood group typing is a very effective method for overcoming current technical limits. The purpose of this study was to identify RHD single‐nucleotide polymorphisms (SNPs) and compare the genotype prevalence among confirmed RhD− individuals in a Chinese population as well as explore effective biomarkers for current weak D or DEL detection before blood transfusion. METHODS: In the present study, 125 weak D (1, 2, 3, and 4.1) or DEL and 185 RhD− blood samples from donors detected by current standard serology were collected. Genotyping system was used to analyze the SNPs of RHD in each sample. RESULTS: Seven SNPs (rs592372, rs11485789, rs6669352, rs3118454, rs1053359, rs590787, and rs3927482) were detected in the RHD region. Rs3118454, rs1053359, rs590787, and rs3927482 showed significant differences between the weak D (1, 2, 3 and 4.1) or DEL and RhD− groups. Further combined analysis of the allelic distribution of these four SNPs revealed their higher frequencies in the RhD− group. CONCLUSION: The SNPs rs3118454, rs1053359, rs590787, and rs3927482 in RHD showed a significantly higher frequency among an RhD− Chinese population and are potential biomarkers.