title: Identification of RHCE and KEL alleles in large cohorts of Afro-Caribbean and Comorian donors by multiplex SNaPshot and fragment assays: a transfusion support for sickle cell disease patients.
abstract: To lower the alloimmunization risk following transfusion in blacks, we developed two genotyping assays for large-scale screening of Comorian and Afro-Caribbean donors. One was a multiplex SNaPshot assay designed to identify ce(s) (340), ceMO/AR/EK/BI/SM, ce(s) , ce(s) (1006) and KEL*6/*7 alleles. The other was a multiplex fragment assay designed to detect RHD, RHDψ and RHCE*C and 455A>C transversion consistent with (C)ce(s) Type 1 and DIII Type5 ce(s) . Variant RHCE*ce alleles or RH haplotypes were detected in 58·69% of Comorians and 41·23% of Afro-Caribbeans. The ce(s) allele, (C)ce(s) Type 1, and DIII Type 5 ce(s) haplotypes were identified respectively in 39·13%, 14·67% and 4·88% of Comorians and 32·23%, 5·28% and 1·76% of Afro-Caribbeans. Genotypes consistent with partial D, C, c and/or e antigen expression were observed in 26·08% of Comorians and 14·69% of Afro-Caribbeans. No homozygous genotype corresponding to the RH:-18, -34, and -46 phenotypes were found. However, over 50% of genotypes produced low-prevalence antigens at risk for negative recipients, i.e., V, VS, JAL, and/or KEL6. One new variant RHCE*ce(s) (712) allele was identified. This is the first determination of variant RHCE and KEL allele frequencies. Results indicate the most suitable targets for molecular assay screening to optimize use of compatible blood units and lower immunization risk.
authors.affiliation: Laboratoire d'Hématologie Moléculaire, Établissement Français du Sang Alpes Méditerranée, UMR 6578, Université de Méditerranée, Marseille, France.
authors.forename: Monique
authors.initials: M
authors.lastname: Silvy
authors.forename: Julie
authors.initials: J
authors.lastname: Di Cristofaro
authors.forename: Sophie
authors.initials: S
authors.lastname: Beley
authors.forename: Kassim
authors.initials: K
authors.lastname: Papa
authors.forename: Michel
authors.initials: M
authors.lastname: Rits
authors.forename: Pascale
authors.initials: P
authors.lastname: Richard
authors.forename: Jacques
authors.initials: J
authors.lastname: Chiaroni
authors.forename: Pascal
authors.initials: P
authors.lastname: Bailly
mesh_terms: D000483:Alleles; D000755:Anemia, Sickle Cell / Q000628:therapy*; D044383:Black People / Q000235:genetics; D001782:Blood Donors; D001788:Blood Grouping and Crossmatching / Q000379:methods*; D001803:Blood Transfusion; D019075:Electrophoresis, Capillary / Q000379:methods; D004812:Epidemiologic Methods; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007626:Kell Blood-Group System / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D012204:Rh-Hr Blood-Group System / Q000235:genetics*
chemical_list: D007626:Kell Blood-Group System; C066468:RHCE protein, human; D012204:Rh-Hr Blood-Group System