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Genetic diversity in RHD and RHCE genes among a selected Kenyan blood donor population
Journal article   Open access   Peer reviewed

Genetic diversity in RHD and RHCE genes among a selected Kenyan blood donor population

Sandra A. Sowah, Alexis J. Perros, Rachel Githiomi, Genghis H. Lopez, Celestino Obiero, Thilini N. Perera, Eileen Roulis, Robert L. Flower and Catherine A. Hyland
Transfusion, Vol.Advanced access
22-Apr-2026
PMID: 42017218
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Transfusion - 2026 - Sowah - Genetic diversity in RHD and RHCE genes among a selected Kenyan blood donor population1.64 MBDownloadView
Published Version (Advanced Access) Open Access CC BY-NC V4.0

Abstract

blood group genotyping blood group phyenotype and genotype discrepancy Kenyan blood donors RH blood group system RHD and RHCE variants
Background Serologic typing for ABO and RhD is standard in transfusion services, with extended serology and genotyping performed to reduce red cell alloimmunization risk. In Kenya, RH typing is limited to RhD, and genotyping is unavailable. This study used RHD/RHCE genotyping to predict phenotypes and their distribution in a Kenyan blood donor population. Study Design and Methods A total of 191 donors (114 D−, 74 D+, and 3 weak D) from the Kenya National Blood Transfusion Service were selected. Next-generation sequencing was performed on DNA extracts using a targeted blood group sequencing panel (Illumina MiSeq). Variant call format (VCF) files were annotated with wANNOVAR, and phenotypes were predicted by matching VCF data to the International Society of Blood Transfusion (ISBT) Blood Group database. Results RHD*01N.01, RHD*08N.01 (RHD*Ψ), and RHD*03N.01 alleles were identified predicting D− phenotype. Discordant phenotype results were observed in 11 samples with genotype predicting nine D+ (partial D) in 114 D−, one D− in 74 D+, and one D− in three weak D phenotypes. For RHCE, 15 allele types produced 30 genotypes with 63% carrying at least one RHCE variant allele linked to: 1) weak and/or partial c and e, 2) hrB−, and 3) V+/−, VS+, phenotypes. Discussion Genotyping revealed RhD/RHD phenotype/genotype discrepancies and RH allele diversity among Kenyan donors, including RHCE variants affecting high- and low-prevalence antigen expression. These findings highlight the role of genotyping to improve accuracy for RH typing to minimize the risk of patient alloimmunization.

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