title: Rare RHCE phenotypes in black individuals of Afro-Caribbean origin: identification and transfusion safety.
abstract: 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)ce(s) haplotype described previously and composed of a hybrid D-CE(3-8)-D gene with 4 extra mutations next to a ce(s) 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 ce(s) 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 [ce(s)(748)] and variants carrying different altered alleles in nonimmunized patients and for whom the risk of immunization is discussed.
authors.affiliation: Centre National de Référence des Groupes Sanguins (CNRGS) and Institut National de la Transfusion Sanguine (INTS), France. pirenne@ints.fr
authors.forename: France
authors.initials: F
authors.lastname: Noizat-Pirenne
authors.forename: Ketty
authors.initials: K
authors.lastname: Lee
authors.forename: Pierre-Yves Le
authors.initials: PY
authors.lastname: Pennec
authors.forename: Philippe
authors.initials: P
authors.lastname: Simon
authors.forename: Philippe
authors.initials: P
authors.lastname: Kazup
authors.forename: Dora
authors.initials: D
authors.lastname: Bachir
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Rouzaud
authors.forename: Michele
authors.initials: M
authors.lastname: Roussel
authors.forename: Geneviève
authors.initials: G
authors.lastname: Juszczak
authors.forename: Cècile
authors.initials: C
authors.lastname: Ménanteau
authors.forename: Philippe
authors.initials: P
authors.lastname: Rouger
authors.forename: Rami
authors.initials: R
authors.lastname: Kotb
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Cartron
authors.forename: Hélène
authors.initials: H
authors.lastname: Ansart-Pirenne
mesh_terms: D000483:Alleles; D000755:Anemia, Sickle Cell / Q000097:blood / Q000235:genetics; D044383:Black People / Q000235:genetics*; D001788:Blood Grouping and Crossmatching / Q000379:methods; D001803:Blood Transfusion; D017691:Caribbean Region / Q000208:ethnology; D004912:Erythrocytes / Q000276:immunology; D005260:Female; D014644:Genetic Variation; D006023:Glycoproteins / Q000235:genetics* / Q000276:immunology*; D006801:Humans; D007518:Isoantibodies / Q000097:blood; D007519:Isoantigens / Q000097:blood / Q000235:genetics; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D012203:Rh Isoimmunization; D012204:Rh-Hr Blood-Group System / Q000235:genetics / Q000276:immunology; D017422:Sequence Analysis, DNA; D012698:Serologic Tests
chemical_list: D006023:Glycoproteins; D007518:Isoantibodies; D007519:Isoantigens; C066468:RHCE protein, human; D012204:Rh-Hr Blood-Group System