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

摘要

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.