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RHCE*cE734C allele encodes an altered c antigen and a suppressed E antigen not detected with standard reagents

Authors

  • Monique Silvy,

    1. From the Laboratoire d'Hématologie Moléculaire–Etablissement Français du Sang Alpes Méditerranée; UMR 7268–Aix-Marseille Université, Marseille, France; Laboratoire d'Immuno-Hématologie Moléculaire–Etablissement Français du Sang Ile de France, Créteil, France; Inserm, U955, Créteil, France; and the Laboratory of Immunohematology and Genomics, New York Blood Center, New York.
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  • Aurélie Barrault,

    1. From the Laboratoire d'Hématologie Moléculaire–Etablissement Français du Sang Alpes Méditerranée; UMR 7268–Aix-Marseille Université, Marseille, France; Laboratoire d'Immuno-Hématologie Moléculaire–Etablissement Français du Sang Ile de France, Créteil, France; Inserm, U955, Créteil, France; and the Laboratory of Immunohematology and Genomics, New York Blood Center, New York.
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  • Randall W. Velliquette,

    1. From the Laboratoire d'Hématologie Moléculaire–Etablissement Français du Sang Alpes Méditerranée; UMR 7268–Aix-Marseille Université, Marseille, France; Laboratoire d'Immuno-Hématologie Moléculaire–Etablissement Français du Sang Ile de France, Créteil, France; Inserm, U955, Créteil, France; and the Laboratory of Immunohematology and Genomics, New York Blood Center, New York.
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  • Christine Lomas-Francis,

    1. From the Laboratoire d'Hématologie Moléculaire–Etablissement Français du Sang Alpes Méditerranée; UMR 7268–Aix-Marseille Université, Marseille, France; Laboratoire d'Immuno-Hématologie Moléculaire–Etablissement Français du Sang Ile de France, Créteil, France; Inserm, U955, Créteil, France; and the Laboratory of Immunohematology and Genomics, New York Blood Center, New York.
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  • Sophie Simon,

    1. From the Laboratoire d'Hématologie Moléculaire–Etablissement Français du Sang Alpes Méditerranée; UMR 7268–Aix-Marseille Université, Marseille, France; Laboratoire d'Immuno-Hématologie Moléculaire–Etablissement Français du Sang Ile de France, Créteil, France; Inserm, U955, Créteil, France; and the Laboratory of Immunohematology and Genomics, New York Blood Center, New York.
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  • Rosanna Mortelecque,

    1. From the Laboratoire d'Hématologie Moléculaire–Etablissement Français du Sang Alpes Méditerranée; UMR 7268–Aix-Marseille Université, Marseille, France; Laboratoire d'Immuno-Hématologie Moléculaire–Etablissement Français du Sang Ile de France, Créteil, France; Inserm, U955, Créteil, France; and the Laboratory of Immunohematology and Genomics, New York Blood Center, New York.
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  • Jacques Chiaroni,

    1. From the Laboratoire d'Hématologie Moléculaire–Etablissement Français du Sang Alpes Méditerranée; UMR 7268–Aix-Marseille Université, Marseille, France; Laboratoire d'Immuno-Hématologie Moléculaire–Etablissement Français du Sang Ile de France, Créteil, France; Inserm, U955, Créteil, France; and the Laboratory of Immunohematology and Genomics, New York Blood Center, New York.
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  • Philippe Bierling,

    1. From the Laboratoire d'Hématologie Moléculaire–Etablissement Français du Sang Alpes Méditerranée; UMR 7268–Aix-Marseille Université, Marseille, France; Laboratoire d'Immuno-Hématologie Moléculaire–Etablissement Français du Sang Ile de France, Créteil, France; Inserm, U955, Créteil, France; and the Laboratory of Immunohematology and Genomics, New York Blood Center, New York.
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  • France Noizat-Pirenne,

    1. From the Laboratoire d'Hématologie Moléculaire–Etablissement Français du Sang Alpes Méditerranée; UMR 7268–Aix-Marseille Université, Marseille, France; Laboratoire d'Immuno-Hématologie Moléculaire–Etablissement Français du Sang Ile de France, Créteil, France; Inserm, U955, Créteil, France; and the Laboratory of Immunohematology and Genomics, New York Blood Center, New York.
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  • Pascal Bailly,

    1. From the Laboratoire d'Hématologie Moléculaire–Etablissement Français du Sang Alpes Méditerranée; UMR 7268–Aix-Marseille Université, Marseille, France; Laboratoire d'Immuno-Hématologie Moléculaire–Etablissement Français du Sang Ile de France, Créteil, France; Inserm, U955, Créteil, France; and the Laboratory of Immunohematology and Genomics, New York Blood Center, New York.
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  • Christophe Tournamille

    Corresponding author
    1. From the Laboratoire d'Hématologie Moléculaire–Etablissement Français du Sang Alpes Méditerranée; UMR 7268–Aix-Marseille Université, Marseille, France; Laboratoire d'Immuno-Hématologie Moléculaire–Etablissement Français du Sang Ile de France, Créteil, France; Inserm, U955, Créteil, France; and the Laboratory of Immunohematology and Genomics, New York Blood Center, New York.
      Tournamille Christophe, Etablissement Français du Sang, Ile de France, Laboratoire IHM–UITC–2eétage, 5, rue Gustave Eiffel, 94000, Créteil, France; e-mail: christophe.tournamille@efs.sante.fr.
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  • This study was supported by Etablissement Français du Sang, Paris, France

Tournamille Christophe, Etablissement Français du Sang, Ile de France, Laboratoire IHM–UITC–2eétage, 5, rue Gustave Eiffel, 94000, Créteil, France; e-mail: christophe.tournamille@efs.sante.fr.

Abstract

BACKGROUND: The RH blood group system has many RHCE variant alleles that have arisen through gene conversion or nucleotide changes. Two probands, with red blood cells (RBCs) that were D+C+E−c+we+ were sent to our laboratories to resolve the weak c expression.

STUDY DESIGN AND METHODS: Hemagglutination tests were performed by automated and manual procedures. Genomic DNA analysis was performed by sequencing of Exons 1 to 10 of RHCE and RHD.

RESULTS: The probands' RBCs did not react with standard monoclonal anti-E reagents from Bio-Rad, Diagast, DiaMed, Immucor, Ortho, and Quotient. The RBCs reacted variably with anti-c reagents from Diagast, DiaMed, Immucor, or Ortho and did not react with the Quotient anti-c reagent. Surprisingly, sequencing results of RHCE showed the presence of C/G at Position 676 (E/e polymorphism) and the association of the E polymorphism with a 734T>C transition in Exon 5 of the RHCE, encoding a Leu245Pro amino acid substitution in the mature RhcE polypeptide. Replacement of leucine 245 by proline in the eighth transmembrane domain of the RhcE protein may have a steric effect on the protein such that most anti-E reagents do not bind and the interaction between anti-c and c antigen is also affected.

CONCLUSION: We report a novel RHCE*cE allele, RHCE*cE734C, which was assigned the provisional ISBT allele name RHCE*cE.14 or RHCE*03.14. It was found in two probands whose RBCs had weakened c expression and typed E− with conventional anti-E reagents. These data, once again, highlight the fact that the genotype does not always reflect the phenotype.

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