title: On the trail of anti-CDE to unexpected highlights of the RHD*weak 4.3 allele in the Upper Austrian population.
abstract: OBJECTIVE
  The application of a commercial available microcolumn system for ABO/RH determination lead to irregular results in CDE typing of seemingly D- blood samples. In this study, we introduce a comprehensive serological and molecular work-up of a novel haplotype carrying the RHD*weak 4.3 in combination with an aberrant RHCE*ce.
  
  
  METHODS
  The molecular background was characterized by RHD and RHCE-specific DNA sequencing, RHD cDNA sequencing and RHD zygosity testing. Haplotype-specific extraction and inheritance analysis were initiated to determine the linkage of the polymorphisms. The genetic admixture was studied by whole genome SNP array analysis. Serology was done using commercial available standard techniques and by in-house sera likewise.
  
  
  RESULTS
  All samples (n = 29) were shown to harbour an altered RHD(T201R, F223V, P291R) allele known as RHD*weak 4.3 associated with a RHCE*ce(W16C, A36T, L245V) gene formation, expressing C(X) and VS. Both anti-C(X) and anti-V/VS were detected as contaminating antibodies in a commercial available microcolumn system for ABO/RH determination accounting for the positive results in CDE typing. Compared with other population data, the samples were clearly identified as Caucasian.
  
  
  CONCLUSIONS
  The RHD*weak 4.3 allele with markedly reduced antigen D expression was shown to be associated with an altered RHCE gene formation leading to the expression of C(X) and VS. Its frequency was estimated 1 in 854 among apparently D- Upper Austrian blood donors.
authors.affiliation: Red Cross Transfusion Service of Upper Austria, Linz, Austria. helene.polin@o.roteskreuz.at
authors.forename: H
authors.initials: H
authors.lastname: Polin
authors.forename: W
authors.initials: W
authors.lastname: Gaszner
authors.forename: C
authors.initials: C
authors.lastname: Hackl
authors.forename: M
authors.initials: M
authors.lastname: Danzer
authors.forename: N
authors.initials: N
authors.lastname: Niklas
authors.forename: C
authors.initials: C
authors.lastname: Gabriel
mesh_terms: D000483:Alleles; D001317:Austria; D005260:Female; D005786:Gene Expression Regulation / Q000235:genetics; D005787:Gene Frequency; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D012204:Rh-Hr Blood-Group System / Q000096:biosynthesis / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D012204:Rh-Hr Blood-Group System; C026410:Rho(D) antigen