Rare RHCE phenotypes in black individuals of Afro-Caribbean origin: identification and transfusion safety

• Published in: Blood 2002-12, Vol.100 (12), p.4223-4231
• Main Authors: Noizat-Pirenne, France, Lee, Ketty, Pennec, Pierre-Yves Le, Simon, Philippe, Kazup, Philippe, Bachir, Dora, Rouzaud, Anne-Marie, Roussel, Michèle, Juszczak, Geneviève, Ménanteau, Cècile, Rouger, Philippe, Kotb, Rami, Cartron, Jean-Pierre, Ansart-Pirenne, Hélène
• Format: Article
• Language: English
• Subjects: African Continental Ancestry Group - genetics; Alleles; Anemia, Sickle Cell - blood; Anemia, Sickle Cell - genetics; Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy; Biological and medical sciences; Blood Grouping and Crossmatching - methods; Blood Transfusion; Blood. Blood and plasma substitutes. Blood products. Blood cells. Blood typing. Plasmapheresis. Apheresis; Caribbean Region - ethnology; Erythrocytes - immunology; Female; Genetic Variation; Glycoproteins - genetics; Glycoproteins - immunology; Humans; Isoantibodies - blood; Isoantigens - blood; Isoantigens - genetics; Male; Medical sciences; Pedigree; Pregnancy; Rh Isoimmunization; Rh-Hr Blood-Group System - genetics; Rh-Hr Blood-Group System - immunology; Sequence Analysis, DNA; Serologic Tests; Transfusions. Complications. Transfusion reactions. Cell and gene therapy
• ISSN: 0006-4971; 1528-0020
• DOI: 10.1182/blood-2002-01-0229

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 RHCEalleles: 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 knownceAR 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.