Identification of RHCE and KEL alleles inlarge cohorts of Afro-Caribbean and Comorian donors by multiplex SNaPshot and fragment assays : a transfusion support for sickle cell disease patients
Résumé
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 ces(340), ceMO/AR/EK/BI/SM, ces, ces (1006) and KEL*6/*7 alleles. The other was a multiplex fragment assay designed to detect RHD, RHDw and RHCE*C and 455A>C transversion consistent with (C)ces Type 1 and DIII Type5 ces. Variant RHCE*ce alleles or RH haplotypes were detected in 58Æ69% of Comorians and 41Æ23% of Afro-Caribbeans. The ces allele, (C)ces Type 1, and DIII Type 5 ces haplotypes were identified respectively in 39Æ13%, 14Æ67% and 4Æ88% of Comorians and 32Æ23%, 5Æ28% and 1Æ76% of Afro- Caribbeans. Genotypes consistent with partial D, C, c and/or e antigen expression were observed in 26Æ08% of Comorians and 14Æ69% of Afro- Caribbeans. No homozygous genotype corresponding to the RH:-18, -34, and -46 phenotypes were found. However, over 50% of genotypes produced lowprevalence antigens at risk for negative recipients, i.e., V, VS, JAL, and/or KEL6. One new variant RHCE*ces(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.
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