title: Presence of RHD in serologically D-, C/E+ individuals: a European multicenter study.
abstract: BACKGROUND
  RHD blood group alleles with reduced or absent antigen expression are a clinically significant and heterogeneous group.
  
  
  METHODS
  To detail population genetics data on apparently D- individuals in central Europe, a six-center study was performed with participants from Austria, Germany, Slovenia, Switzerland, and Russia. A total of 1700 serologically D- samples, positive for C and/or E, were investigated.
  
  
  RESULTS
  Observed unexpressed RHD alleles were 59 RHD-CE-D+ hybrid alleles, 9 apparently regular RHD, 1 new RHD(Y401X); DELs were 8 RHD(M295I), 6 RHD(IVS3+1G>A), and 1 new RHD(X418L); and weakly expressed RHDs were 2 weak D type 5, 1 weak D type 1, 1 RHD category VI type 1, and 1 novel weak D type 26. Although weak D type 26 was shown to have one of the lowest D antigen densities ever observed, it gave rise to anti-D immunization in a transfused D- individual.
  
  
  CONCLUSIONS
  The relative occurrence of RHD among serologically D- samples, positive for C and/or E, differed significantly in the investigated central European regions. Considering the growing use of molecular typing techniques, correct identification of blood group alleles with scarce or missing antigen expression is of utmost clinical importance and requires reliable population-based frequency data.
authors.affiliation: Central Institute for Blood Transfusion and Immunological Department, General Hospital and University Clinics Innsbruck, Innsbruck, Austria. christoph.gassner@uklibk.ac.at
authors.forename: Christoph
authors.initials: C
authors.lastname: Gassner
authors.forename: Andrea
authors.initials: A
authors.lastname: Doescher
authors.forename: Tadeja Dovc
authors.initials: TD
authors.lastname: Drnovsek
authors.forename: Primoz
authors.initials: P
authors.lastname: Rozman
authors.forename: Nicole I
authors.initials: NI
authors.lastname: Eicher
authors.forename: Tobias J
authors.initials: TJ
authors.lastname: Legler
authors.forename: Sergey
authors.initials: S
authors.lastname: Lukin
authors.forename: Henk
authors.initials: H
authors.lastname: Garritsen
authors.forename: Thomas
authors.initials: T
authors.lastname: Kleinrath
authors.forename: Bernd
authors.initials: B
authors.lastname: Egger
authors.forename: Rainer
authors.initials: R
authors.lastname: Ehling
authors.forename: Günther F
authors.initials: GF
authors.lastname: Körmöczi
authors.forename: Susanne
authors.initials: S
authors.lastname: Kilga-Nogler
authors.forename: Diether
authors.initials: D
authors.lastname: Schoenitzer
authors.forename: Eduard K
authors.initials: EK
authors.lastname: Petershofen
mesh_terms: D000483:Alleles; D001483:Base Sequence; D001771:Blood Banks; D005060:Europe; D005260:Female; D005820:Genetic Testing; D005828:Genetics, Population; D006801:Humans; D007518:Isoantibodies / Q000097:blood; D009154:Mutation; D010641:Phenotype; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000276:immunology; D012204:Rh-Hr Blood-Group System / Q000235:genetics* / Q000276:immunology; D012426:Russia; D065227:Transfusion Reaction
chemical_list: D007518:Isoantibodies; D012204:Rh-Hr Blood-Group System; C026410:Rho(D) antigen