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Prepublished online as a Blood First Edition Paper on August 1, 2002; DOI 10.1182/blood-2002-01-0229. This Article Full Text (PDF) All Versions of this Article: 2002-01-0229v1 100/12/4223    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Noizat-Pirenne, F. Articles by Ansart-Pirenne, H. Search for Related Content PubMed PubMed Citation Articles by Noizat-Pirenne, F. Articles by Ansart-Pirenne, H. Social Bookmarking                   What's this? Submitted January 25, 2002 Accepted July 3, 2002 Rare RHCE phenotypes in Black individuals of Afro-Caribbean origin: identification and transfusion safety France Noizat-Pirenne*, Ketty Lee, Pierre-Yves Le Pennec, Philippe Simon, Philippe Kazup, Dora Bachir, Anne-Marie Rouzaud, Michele Roussel, Genevieve Juszczak, Cecile Menanteau, Philippe Rouger, Rami Kotb, Jean-Pierre Cartron, and Helene Ansart-Pirenne CNRGS, Institut National de la Transfusion Sanguine, Paris, France; INSERM U76, Paris, France Centre de la Drepanocytose, AP-HP, Creteil, France Etablissement Francais du Sang, La Reunion, France Centre de la Drepanocytose, AP-HP, Creteil, France; INSERM U76, Paris, France CNRGS, Institut National de la Transfusion Sanguine, Paris, France INSERM Unite 76, Paris, France * Corresponding author; email: pirenne{at}ints.fr. The molecular backgrounds of variants encountered in Afro-Caribbean Black individuals and associated to the production of clinically significant antibodies against high-incidence antigens (anti-RH18, anti-RH34) and against Rhe epitopes were determined. We showed that RH:-18 phenotypes are produced by 3 distinct RHCE alleles : ceEK carrying 48G>C (exon 1), 712A>G, 787A>G, 800T>A (exon 5), ceBI carrying 48G>C (exon 1), 712A>G (exon 5), 818C>T (exon 6), 1132C>G (exon 8) and the already known ceAR allele carrying 48G>C (exon 1), 712A>G, 733C>G, 787A>G, 800T>A (exon 5), 916A>G (exon 6). The RH:-34 phenotype is produced by the (C)ces haplotype described previously and composed of an hybrid D-CE(3-8)-D gene with 4 extra-mutations next to a ces allele (733C>G; exon 5) with an extra-mutation in exon 7 (1006G>T). Partial Rhe with risk of immunization against lacking epitopes can be produced by the new ces allele carrying an extra-mutation in exon 3 (340C>T) and by the ceMO allele described previously. A population of sickle cell disease patients was screened to estimate the incidence of these rare alleles with the conclusion that a procedure is required to detect the associated phenotypes in Black donors in order to ensure transfusion safety for patients. We also described a new variant (ces(748)) and variants carrying different altered alleles in non immunized patients and for whom the risk of immunization is discussed. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: F. Noizat-Pirenne, D. Bachir, P. Chadebech, M. Michel, A. Plonquet, J.-C. Lecron, F. Galacteros, and P. Bierling Rituximab for prevention of delayed hemolytic transfusion reaction in sickle cell disease Haematologica, December 1, 2007; 92(12): e132 - e135. [Abstract] [Full Text] [PDF]

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