Identification of six new RHCE variant alleles in individuals of diverse racial origin

Transfusion. 2016 Jan;56(1):244-8. doi: 10.1111/trf.13357. Epub 2015 Oct 4.


Background: The introduction of molecular methods into routine blood typing is prompting the identification of new blood group alleles. Discrepancies between the results of genotyping and serology or chance events uncovered during genotyping prompted additional investigations, which revealed six new RHCE variant alleles.

Study design and methods: Samples from eight blood donors, two patients (one prenatal), and a patient's relative, all of diverse racial origin, were analyzed by standard serology methods, targeted genotyping arrays, DNA sequencing, and allele-specific polymerase chain reaction.

Results: Six new RHCE alleles were identified, namely, RHCE*cE84A, RHCE*ce202G, RHCE*ce307T, RHCE*Ce377G, RHCE*ce697G,712G,733G,744C, and RHCE*Ce733G.

Conclusion: While implementation of new assays in commercial genotyping platforms to detect the polymorphisms reported here may not be justified given their apparent rarity, software interpretative algorithms may benefit from the identification of new alleles for a more accurate determination of genotypes and prediction of phenotypes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles*
  • Black People / genetics*
  • Blood Donors*
  • Genetic Markers
  • Genotype
  • Genotyping Techniques
  • Humans
  • Phenotype
  • Polymorphism, Genetic*
  • Rh-Hr Blood-Group System / genetics*
  • Sequence Analysis, DNA
  • White People / genetics*


  • Genetic Markers
  • RHCE protein, human
  • Rh-Hr Blood-Group System