RHCE*cE734C allele encodes an altered c antigen and a suppressed E antigen not detected with standard reagents

Abstract

We report a novel RHCE*cE allele, RHCE*cE734C, which was assigned the provisional ISBT allele name RHCE*cE.14 or RHCE*03.14. It was found in two probands whose RBCs had weakened c expression and typed E- with conventional anti-E reagents. These data, once again, highlight the fact that the genotype does not always reflect the phenotype.

Rh and RHAG Blood Group Systems

“…Two Caucasian men had an RHCE allele ( RHCE * cE734C ) encoding Leu245Pro and produced altered c and suppressed E, not detected with standard reagents [459] .…”

“…White [459] Homozygous R N individuals can make, if immunised by pregnancy or transfusion, anti -Rh46, which reacts with red cells of almost all Rh phenotypes except R N , Rh null , D --, and related phenotypes [157,442] . Anti -Rh46 has been responsible for serious HDFN [442] .…”

Resolution of RHCE Haplotype Ambiguities in Transfusion Settings

“…In the context of routine immunohematology, serological techniques enable us to characterize most of the Rh phenotypes, and within the last decade, molecular biology solutions have helped compensate for the main limitations of serological techniques [ 12 , 13 , 14 , 15 , 16 , 17 , 18 ]. Still, in some situations, ambiguities or discrepancies cannot be resolved, especially for RhCE, and uncertainties remain regarding the transfusion instructions; in this context, the French Blood Center, whose main mission is to ensure France’s self-sufficiency in blood products under optimal safety and quality conditions, is continuously setting up molecular typing strategies in line with technological developments [ 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 ].…”