RhCE-D (2)-CE hybrid allele causing puzzle in serology and sequencing: a case report
  
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DOI:10.46701/BG.2020022020113
KeyWord:RhD, RhCE, hybrid allele, phenotype, genotype
                       
AuthorInstitution
Jing Wang Department of Blood Transfusion, the First Affiliated Hospital of Chongqing Medical University, Chongqing 400016, China.
Changyan Li Department of Blood Transfusion, Liang Ping District People's Hospital, Chongqing 405200, China.
Lian Duan Department of Blood Transfusion, Liang Ping District People's Hospital, Chongqing 405200, China.
Wenjun Que Department of Blood Transfusion, the First Affiliated Hospital of Chongqing Medical University, Chongqing 400016, China.
Yan Xing Department of Blood Transfusion, the First Affiliated Hospital of Chongqing Medical University, Chongqing 400016, China.
Bin Tan Department of Blood Transfusion, the First Affiliated Hospital of Chongqing Medical University, Chongqing 400016, China.
Tingxi Zhan Department of Blood Transfusion, the First Affiliated Hospital of Chongqing Medical University, Chongqing 400016, China.
Zebo Yu Department of Blood Transfusion, the First Affiliated Hospital of Chongqing Medical University, Chongqing 400016, China.
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Abstract:
      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-specific 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 conf using RhD phenotype.
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