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Prepublished online as a Blood First Edition Paper on August 1, 2002; DOI 10.1182/blood-2002-01-0229.
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Blood, 1 December 2002, Vol. 100, No. 12, pp. 4223-4231
TRANSFUSION MEDICINE
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,
Michèle Roussel,
Geneviève Juszczak,
Cècile Ménanteau,
Philippe Rouger,
Rami Kotb,
Jean-Pierre Cartron, and
Hélène Ansart-Pirenne
From the Centre National de Référence des
Groupes Sanguins (CNRGS) and Institut National de la Transfusion
Sanguine (INTS); the Etablissement Français du Sang, La
Réunion; and Institut National de la Santé et de la
Recherche Médicale (INSERM) U76, Paris, France; and
the Centre de la Drépanocytose, Hôpital Henri Mondor,
Créteil; France.
The molecular backgrounds of variants encountered in Afro-Caribbean
black individuals and associated with 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), and 916A>G (exon 6). The RH:34 phenotype
is produced by the (C)ces haplotype described
previously and composed of a 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 to ensure transfusion safety for patients. We also
described a new variant [ces(748)] and
variants carrying different altered alleles in nonimmunized patients
and for whom the risk of immunization is discussed.
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