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RHCE*ceMO is frequently in cis to RHD*DAU0 and encodes a hr S –, hr B –, RH :–61 phenotype in black persons: clinical significance
Author(s) -
Westhoff Connie M.,
Vege Sunitha,
Horn Trina,
HueRoye Kim,
Halter Hipsky Christine,
LomasFrancis Christine,
Reid Marion E.
Publication year - 2013
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1111/trf.12271
Subject(s) - rh blood group system , polyclonal antibodies , exon , microbiology and biotechnology , genetics , genomic dna , allele , biology , antigen , antibody , gene
Background RHCE*ceMO has nucleotide changes 48 G > C and 667 G > T , which encode, respectively, 16 C ys and 223 P he associated with altered expression of e antigen. RHD*DAU0 has Nucleotide 1136 C > T , which encodes 379 M et associated with normal levels of D . We compiled serologic and DNA testing data on samples with RHCE*ceMO to determine the red blood cell ( RBC ) antigen expression, antibody specificity, RHD association, and the prevalence in A frican‐ A merican persons. Study Design and Methods Serologic testing was performed by standard methods. Genomic DNA was used for polymerase chain reaction–restriction fragment length polymorphism and RH –exon sequencing, and for some, Rh ‐ cDNA was sequenced. Seventy‐seven (50 donor and 27 patient) samples with RHCE*ceMO were studied, and 350 A frican‐ A merican persons were screened for allele prevalence. Results RBCs from RHCE*ceMO homozygotes (or heterozygotes with RHCE*cE in trans) were weak or nonreactive with some anti‐e and were nonreactive with polyclonal anti‐ hr S and anti‐ hr B . Twenty‐three transfused patients homozygous for RHCE*ceMO/ceMO or with RHCE*ceMO in trans to RHCE*cE or *ce had alloanti‐e, anti‐f, anti‐ hr S / hr B , or an antibody to a high‐prevalence Rh antigen. Three patients with alloanti‐c had RHCE*ceMO in trans to RHCE*Ce . RHD*DAU0 was present in 30% of A frican‐ A merican persons tested and in 69 of 77 (90%) of samples with RHCE*ceMO . Conclusions RHCE*ceMO encodes partial e, as previously reported, and also encodes partial c, a hr S – and hr B – phenotype, and the absence of a high‐prevalence antigen ( RH 61). The antibody in transfused patients depended on the RHCE allele in trans. RHCE*ceMO was present in one in 50 A frican‐ A merican persons with an allele frequency of 0.01, is often linked to RHD*DAU0 , and is potentially of clinical significance for transfusion.