Identification of <i>RHCE</i> and <i>KEL</i> alleles in large cohorts of Afro-Caribbean and Comorian donors by multiplex SNaPshot and fragment assays: a transfusion support for sickle cell disease patients - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue British Journal of Haematology Année : 2011

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

Monique Silvy
  • Fonction : Auteur
  • PersonId : 914832
Julie Di Cristofaro
  • Fonction : Auteur
  • PersonId : 908648
Sophie Beley
  • Fonction : Auteur
  • PersonId : 914833
Kassim Papa
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  • PersonId : 914834
Michel Rits
  • Fonction : Auteur
  • PersonId : 914835
Pascale Richard
  • Fonction : Auteur
  • PersonId : 914836
Chiaroni Jacques

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, RHDΨand 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 58.69% of Comorians and 41.23% of Afro-Caribbeans. The ces allele, (C)ces Type 1, and DIII Type 5 ces 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*ces(712) allele was identified. This is the first determination of variant RHCE and KEL allele frequencies. Results indicate most suitable targets for molecular assay screening to optimize use of compatible blood units and lower immunization risk.

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Dates et versions

hal-00645380 , version 1 (28-11-2011)

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Monique Silvy, Julie Di Cristofaro, Sophie Beley, Kassim Papa, Michel Rits, et al.. 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. British Journal of Haematology, 2011, 154 (2), pp.260. ⟨10.1111/j.1365-2141.2011.08691.x⟩. ⟨hal-00645380⟩

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