A novel silentRHCEallele in Chinese population

• DOI: 10.1111/tme.12624
• Publication Date: 2019-08-20T03:09:47Z
• Authors: F. Y. Zhao; Q. Li; D. M. Zhang; Z. H. Guo; Y. X. Wu; F. Wang; J. M. Zhang; M. Qian; Z. Y. Zhu
• Keywords: China; 03 medical and health sciences; Rh-Hr Blood-Group System; 0302 clinical medicine; Asian People; Codon, Nonsense; Infant, Newborn; Humans; Female; Exons; Alleles; 3. Good health

SUMMARYObjectivesWe 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.BackgroundThe silentRHCEallele is rare in the Rh system.MethodsTo 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. TheRHgenes of the family members were further analysed by sequencing.ResultsThe 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 silentRHCE * 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).ConclusionThe silentRHCE * 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 theRHCEgene in the Chinese population.