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Published on: January 16, 2017
RHCE*ceTI encodes partial c and partial e and is often in cis to RHD*DIVa
Connie M Westhoff1, Sunitha Vege, Christine Halter Hipsky
1Laboratory of Immunohematology and Genomics, New York Blood Center, Long Island City, New York 10065, USA. mreid@nybloodcenter.org
The RHD*DIVa and RHCE*ceTI variants, common in people of African ancestry, often occur together and can cause unreliable RhD zygosity testing due to variable anti-C reactivity. These variants encode partial c and e antigens.
Area of Science:
- Genetics
- Immunology
- Hematology
Background:
- The Rh blood group system features variant RhD and RhCE proteins expressing partial antigens.
- Investigated RH gene variants in samples exhibiting partial DIVa and weak anti-C reactivity.
Purpose of the Study:
- To characterize RH gene variants associated with partial DIVa and aberrant anti-C reactivity.
- To determine the co-inheritance patterns of RHD*DIVa and RHCE*ceTI.
- To assess the impact of these variants on RhD zygosity testing.
Main Methods:
- Utilized standard hemagglutination techniques.
- Employed polymerase chain reaction-based assays for DNA analysis.
- Performed RH gene sequencing and genotyping.
Main Results:
- RHD*DIVa, encoding partial D and Go(a), was identified in samples with weak anti-C reactions.
- RHCE*ceTI (RHCE nt 48G>C and 1025C>T) was frequently found with RHD*DIVa, encoding partial c and e antigens.
- RHD*DIVa and RHCE*ceTI were found to travel together in most cases, particularly in individuals of African ancestry.
- RHD zygosity assays were unreliable in samples carrying RHD*DIVa.
Conclusions:
- RHD*DIVa and RHCE*ceTI are often co-inherited, forming a common haplotype in individuals of African ancestry.
- This haplotype can lead to variable and weak reactivity with anti-C antibodies.
- The presence of RHD*DIVa significantly impacts the accuracy of RhD zygosity testing.
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