A novel silent RHCE RHCE allele in Chinese population

摘要

SUMMARY Objectives We aimed to analyse the molecular backgrounds of the family in which an eight‐day‐old baby was confirmed to have hemolytic disease of the newborn (HDN) and phenotype observed for the baby did not conform to the expected phenotype. Background The silent RHCE allele is rare in the Rh system. Methods To determine the antibody specificity, her family members' blood samples were collected and tested using routine serological methods. The Rh C?+?c‐e?+? E ‐ phenotype observed for the baby did not conform to the expected phenotype based on the maternal RhC‐c?+?E?+?e‐ phenotype. The RH genes of the family members were further analysed by sequencing. Results The Rh phenotypes of the baby, her brother, her mother and father were CCDee, CcDEe, ccDEE and CCDee, respectively. IgG anti‐e was confirmed to cause the HDN in the case. A heterozygous silent RHCE * 03 (c.1059G??A) mutation in exon 7 was found in the baby and her mother, which is a novel nonsense allele caused by a premature termination codon (Trp353stop). Conclusion The silent RHCE * 03 (c.1059G??A) variant was observed in a heterozygous state in mother and baby. We predict that, had this occurred in the homozygous state, it would give rise to the rare D‐‐ phenotype. To enhance the safety of transfusion, considerable attention should be paid to the RHCE gene in the Chinese population.