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The RHCE allele ceRT: D epitope 6 expression does not require D-specific amino acids
Franz F Wagner1, Birgit Ladewig, Willy A Flegel
1Department of Transfusion Medicine, University of Ulm, Ulm, Germany.
Transfusion
|August 16, 2003
Summary
False-positive RhD typing results can occur due to RhCE variants mimicking the D epitope. The ceRT variant expresses D epitope 6 without D-specific amino acids, revealing a new mechanism for RhD expression.
Area of Science:
- Transfusion Medicine
- Immunology
- Genetics
Background:
- False-positive RhD typing can lead to alloimmunization and improper RhD prophylaxis.
- Known causes include RhCE variants and cold agglutinins affecting monoclonal anti-D reagents.
Purpose of the Study:
- Investigate the molecular basis of false-positive RhD reactions.
- Identify aberrant RHCE alleles responsible for erroneous D typing.
Main Methods:
- PCR and nucleotide sequencing of genomic DNA from eight referred samples.
- Development of sequence-specific PCR to detect aberrant RHCE alleles.
- Serological determination of the D epitope profile.
Main Results:
- The RHCE allele RHCE(R154T) in a cde haplotype caused aberrant reactivity.
- This ceRT phenotype expressed D epitope 6, a key target for monoclonal anti-D.
Conclusions:
- Characterization of ceRT revealed a novel mechanism of RhD expression independent of D-specific amino acids.
- RhCE variants can mimic D epitopes, potentially causing misidentification.