Volume 4 Issue 2
Dec.  2020
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Jing Wang, Changyan Li, Lian Duan, Wenjun Que, Yan Xing, nTan Bi, Tingxi Zhan, Zebo Yu. RhCE-D (2)-CE hybrid allele causing puzzle in serology and sequencing: a case report[J]. Blood&Genomics, 2020, 4(2): 151-155. doi: 10.46701/BG.2020022020113
Citation: Jing Wang, Changyan Li, Lian Duan, Wenjun Que, Yan Xing, nTan Bi, Tingxi Zhan, Zebo Yu. RhCE-D (2)-CE hybrid allele causing puzzle in serology and sequencing: a case report[J]. Blood&Genomics, 2020, 4(2): 151-155. doi: 10.46701/BG.2020022020113

RhCE-D (2)-CE hybrid allele causing puzzle in serology and sequencing: a case report

doi: 10.46701/BG.2020022020113
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  • Corresponding author: Zebo Yu, MD, Department of Blood Transfusion, the First Affiliate Hospital of Chongqing Medical University, Chongqing 400016, China. Tel: +86-23-89011038, E-mail: yuzebo2001@163.com
  • Received Date: 2020-07-06
  • Accepted Date: 2020-11-12
  • Rev Recd Date: 2020-08-24
  • Available Online: 2021-07-01
  • Publish Date: 2020-12-30
  • The Rh locus, one of the important blood group systems in transfusion medicine, is controlled by three highly homologous genes: RHAG, RHD and RHCE. RHD and RHCE genes both contain 10 exons with opposite orientation, with genetic homology of higher than 92%. Based on this arrangement and configuration, a hybridization variant easily occurs, which causes variant or weak antigen expression. A 46-year-old woman of group A was admitted to hospital with bloody stool. Her RhD phenotype was confusing (agglutination < 1+) as detected by gel card. The unexpected antibody was identified to be anti-D. Only exon 2 of RHD was detected by sequence-speci?c primer polymerase chain reaction (SSP-PCR) with hybrid heterozygosis of c.150T > C, c.178A > C, c.201G > A, and c.307T > C by sequencing. The genotype of RHCE was confirmed to be Ccee by SSP-PCR and the serologic phenotype was Ccee too. However, the sequencing of RhCE was confirmed to be ccee with c.178CC, c.203AA, c.307CC on exon 2. Further analysis found that the difference between them depended on the replacement of exon 2 from RhD. The genotype of this patient was found to be RhCE-D(2)-CE/RhCE, leading to a confusing RhD phenotype.

     

  • Conflict of interest: The authors have no conflict of interest to report.
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