Molecular biology analysis of 2 rare RhD variant individuals with RHDDEL37

• Published in: Beijing da xue xue bao. Journal of Peking University. Yi xue ban 2024-04, Vol.56 (2), p.352-356
• Main Authors: Wang, Peng, Yang, Ziyao, Wang, Meng, Wang, Wei, Li, Aizhi
• Format: Article
• Language: Chinese
• ISSN: 1671-167X
• DOI: 10.19723/j.issn.1671-167X.2024.02.024

The Rh blood grouping system is a critical standardized test in transfusion medicine, especially for the cases related to haemolytic transfusion reactions and neonatal haemolytic disease caused by clinical RhD blood group incompatibility. In the present case report, we presented two cases with the uncommon RHD gene variation RHD*DEL37. The blood samples of the two subjects were mistakenly identified as RhD-negative through conventional serological testing. Firstly, both blood samples were tested negative for the RhD antigen using traditional tube test and gel microcolumn methods. The phenotyping of RhCE were identified as ccEe and ccee for each sample, respectively. Secondly, genetic analysis was performed using polymerase chain reaction-sequence specific prime (PCR-SSP) which revealed that neither sample belonging to the several common RHD gene variants which was found in Asia. Moreover, they turned out to be positive for the RHD haplotype, which indicated that exons 1-10 on one of the RHD alleles were entir