title: New RHCE variant alleles encoding the D- - phenotype.
abstract: BACKGROUND
  Variant alleles that do not produce RhCE antigens are rare. Consequently, they pose a challenge to transfusion when found in alloimmunized patients and make blood units valuable when found in donors.
  
  
  METHODS
  Five index cases and their relatives were studied by both serologic and molecular techniques. Genomic DNA was subjected to microarray genotyping, sequencing, exon scanning, and/or copy number determination assays to identify the RHCE allele(s) responsible for their D+ C- c- E- e- (D- -) phenotype.
  
  
  RESULTS
  The five apparent D- - phenotypes were confirmed by molecular methods. Three of them contained unreported RHCE-null alleles, namely, RHCE*Ce-D(3-9)-Ce, RHCE*Ce87_93insT, and RHCE*cE221A.
  
  
  CONCLUSIONS
  Molecular analysis of D- - phenotypes allows the identification of new RHCE-null variants. Conversely, detection of described RHCE-null variants facilitates confirmation of D- - phenotypes in patients and donors, helping improve transfusion safety.
authors.affiliation: R&D Department, Progenika Inc., Medford, Massachusetts.
authors.forename: Gorka
authors.initials: G
authors.lastname: Ochoa-Garay
authors.forename: Joann M
authors.initials: JM
authors.lastname: Moulds
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Cote
authors.forename: Lesley
authors.initials: L
authors.lastname: Kresie
authors.forename: Adirane
authors.initials: A
authors.lastname: Garaizar
authors.forename: Mindy
authors.initials: M
authors.lastname: Goldman
authors.forename: Polly
authors.initials: P
authors.lastname: Wynn
mesh_terms: D000483:Alleles; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011247:Pregnancy; D012204:Rh-Hr Blood-Group System / Q000235:genetics*
chemical_list: C066468:RHCE protein, human; D012204:Rh-Hr Blood-Group System; C026410:Rho(D) antigen