RHCE*ceMO is frequently in cis to RHD*DAU0 and encodes a hrS–, hrB–, RH:–61 phenotype in black persons: clinical significance

Authors

  • Connie M. Westhoff,

    Corresponding author
    1. Laboratory of Immunohematology and Genomics, New York Blood Center
    2. Laboratory of Immunochemistry, New York Blood Center, New York, New York
    3. National Molecular Testing Laboratory, American Red Cross, Philadelphia, Pennsylvania
    • Address reprint requests to: Connie Westhoff, SBB, PhD, Laboratory of Immunohematology and Genomics, New York Blood Center, 45-01 Vernon Boulevard, Long Island City, NY 11101; e-mail: cwesthoff@nybloodcenter.org.

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  • Sunitha Vege,

    1. Laboratory of Immunohematology and Genomics, New York Blood Center
    2. Laboratory of Immunochemistry, New York Blood Center, New York, New York
    3. National Molecular Testing Laboratory, American Red Cross, Philadelphia, Pennsylvania
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  • Trina Horn,

    1. Laboratory of Immunohematology and Genomics, New York Blood Center
    2. Laboratory of Immunochemistry, New York Blood Center, New York, New York
    3. National Molecular Testing Laboratory, American Red Cross, Philadelphia, Pennsylvania
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  • Kim Hue-Roye,

    1. Laboratory of Immunohematology and Genomics, New York Blood Center
    2. Laboratory of Immunochemistry, New York Blood Center, New York, New York
    3. National Molecular Testing Laboratory, American Red Cross, Philadelphia, Pennsylvania
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  • Christine Halter Hipsky,

    1. Laboratory of Immunohematology and Genomics, New York Blood Center
    2. Laboratory of Immunochemistry, New York Blood Center, New York, New York
    3. National Molecular Testing Laboratory, American Red Cross, Philadelphia, Pennsylvania
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  • Christine Lomas-Francis,

    1. Laboratory of Immunohematology and Genomics, New York Blood Center
    2. Laboratory of Immunochemistry, New York Blood Center, New York, New York
    3. National Molecular Testing Laboratory, American Red Cross, Philadelphia, Pennsylvania
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  • Marion E. Reid

    1. Laboratory of Immunohematology and Genomics, New York Blood Center
    2. Laboratory of Immunochemistry, New York Blood Center, New York, New York
    3. National Molecular Testing Laboratory, American Red Cross, Philadelphia, Pennsylvania
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  • The study was supported in part by Grant NIH HL091030 (MER, CHH, KHR) and the Doris Duke Foundation (CW).

Abstract

Background

RHCE*ceMO has nucleotide changes 48G>C and 667G>T, which encode, respectively, 16Cys and 223Phe associated with altered expression of e antigen. RHD*DAU0 has Nucleotide 1136C>T, which encodes 379Met 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 African-American 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 African-American 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-hrS and anti-hrB. 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-hrS/hrB, 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 African-American 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 hrS– and hrB– phenotype, and the absence of a high-prevalence antigen (RH61). The antibody in transfused patients depended on the RHCE allele in trans. RHCE*ceMO was present in one in 50 African-American persons with an allele frequency of 0.01, is often linked to RHD*DAU0, and is potentially of clinical significance for transfusion.

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