title: Diverse and novel RHD variants in Australian blood donors with a weak D phenotype: implication for transfusion management.
abstract: OBJECTIVE
  Variant RHD genes associated with the weak D phenotype can result in complete or partial D-epitope expression on the red cell. This study examines the genetic classification in Australian blood donors with a weak D phenotype and correlates RHD variants associated with the weak D phenotype against D-epitope profile.
  
  
  METHODS
  Following automated and manual serology, blood samples from donors reported as 'weak D' (n = 100) were RHD genotyped by a commercial SNP-typing platform and Sanger sequencing. Two commercial anti-D antibody kits were used for extended serological testing for D-epitope profiles.
  
  
  RESULTS
  Three samples had wild-type RHD exonic sequences, and 97 samples had RHD variants. RHD*weak D type 1, RHD*weak D type 2 or RHD*weak D type 3 was detected in 75 donors. The remaining 22 samples exhibited 17 different RHD variants. One donor exhibited a novel RHD*c.939+3A>C lacking one D-epitope. Weak D types 1·1, 5, 15, 17 and 90 showed a partial D-epitope profile.
  
  
  CONCLUSIONS
  The array of RHD variants detected in this study indicated diversity in the Australian donor population that needs to be accommodated for in future genotyping strategies.
authors.affiliation: Clinical Services and Research, Australian Red Cross Blood Service, Kelvin Grove, QLD, Australia.
authors.forename: E C
authors.initials: EC
authors.lastname: McGowan
authors.affiliation: Clinical Services and Research, Australian Red Cross Blood Service, Kelvin Grove, QLD, Australia.
authors.forename: G H
authors.identifier: http://orcid.org/0000-0001-8568-0604
authors.initials: GH
authors.lastname: Lopez
authors.affiliation: Clinical Services and Research, Australian Red Cross Blood Service, Kelvin Grove, QLD, Australia.|School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, QLD, Australia.
authors.forename: C M
authors.initials: CM
authors.lastname: Knauth
authors.affiliation: Red Cell Reference Laboratory, Australian Red Cross Blood Service, Kelvin Grove, QLD, Australia.
authors.forename: Y-W
authors.initials: YW
authors.lastname: Liew
authors.affiliation: Red Cell Reference Laboratory, Australian Red Cross Blood Service, West Melbourne, Vic., Australia.
authors.forename: J A
authors.initials: JA
authors.lastname: Condon
authors.affiliation: Red Cell Reference Laboratory, Australian Red Cross Blood Service, West Melbourne, Vic., Australia.
authors.forename: L
authors.initials: L
authors.lastname: Ramadi
authors.affiliation: Red Cell Reference Laboratory, Australian Red Cross Blood Service, Alexandria, NSW, Australia.
authors.forename: K
authors.initials: K
authors.lastname: Parsons
authors.affiliation: Red Cell Reference Laboratory, Australian Red Cross Blood Service, Kelvin Grove, QLD, Australia.
authors.forename: E M
authors.initials: EM
authors.lastname: Turner
authors.affiliation: Clinical Services and Research, Australian Red Cross Blood Service, Kelvin Grove, QLD, Australia.
authors.forename: R L
authors.initials: RL
authors.lastname: Flower
authors.affiliation: Clinical Services and Research, Australian Red Cross Blood Service, Kelvin Grove, QLD, Australia.
authors.forename: C A
authors.initials: CA
authors.lastname: Hyland
mesh_terms: D000483:Alleles; D001315:Australia; D001483:Base Sequence; D001782:Blood Donors / Q000706:statistics & numerical data*; D001803:Blood Transfusion; D004247:DNA / Q000737:chemistry / Q000302:isolation & purification / Q000378:metabolism; D000939:Epitopes / Q000276:immunology / Q000378:metabolism; D005091:Exons; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007518:Isoantibodies / Q000097:blood; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012204:Rh-Hr Blood-Group System / Q000235:genetics*; D018029:Rho(D) Immune Globulin / Q000097:blood; D017422:Sequence Analysis, DNA; D012698:Serologic Tests
chemical_list: D000939:Epitopes; D007518:Isoantibodies; C061961:RHO(D) antibody; D012204:Rh-Hr Blood-Group System; D018029:Rho(D) Immune Globulin; D004247:DNA
keywords: RHD genotyping; frequency distribution; weak D