title: [Contribution of red blood group genotyping for recipients in immune-hematology through three years of activity at the EFS Alpes-Méditerranée].
abstract: OBJECTIVE
  Current knowledge of the molecular basis of most blood groups enables genetic testing for blood groups to overcome the limitations of agglutination. A retrospective review was carried out on genotyping assays performed between 2011 and 2013.
  
  
  METHODS
  The Molecular Hematology Laboratory of the EFS Alpes-Méditerranée implements commercially available tools (BioArray, Gen-Probe) and other techniques (TaqMan, tetra-primer ARMS-PCR, sequencing). It provides a high-level of expertise in molecular biology, complying with regulatory requirements and standards.
  
  
  RESULTS
  A total of 2382 genotyping assays was performed including 764 extended typings and 115 large extended typings essentially in cases involving multiple transfusion and suspected rare blood type. Phenotype discrepancies linked to the RH system accounted for 1501 genotypings. Discrepancies linked to the D and E were mainly related to an allele coding for weak antigen (weak D type 1, 2, 3 and EIV) while those linked to C, c and e antigens were related to an allele coding for a partial antigen (RN, ces(340), ceMo). A high prevalence of (C)ces haplotype in trans of a DAR allele was observed in Afro-Caribbean (54/62).
  
  
  CONCLUSIONS
  In transfusion medicine, red-cell genotyping can overcome the limitations of hemagglutination. It must be used only in situations where it provides a benefit either for the patient or resource management. For implementation of appropriate transfusional practices, this technique requires a sound knowledge of the genetic characteristics of blood groups and clinically relevant variants. It also requires competency with molecular biology tools and continuously updated scientific data.
authors.affiliation: Laboratoire d'hématologie moléculaire, Établissement français du sang (EFS) Alpes-Méditerranée, 207, boulevard Sainte-Marguerite, 13009 Marseille, France; UMR 7268 ADÉS Aix-Marseille université - EFS - CNRS, 13009 Marseille, France.
authors.forename: M
authors.initials: M
authors.lastname: Silvy
authors.affiliation: Laboratoire d'hématologie moléculaire, Établissement français du sang (EFS) Alpes-Méditerranée, 207, boulevard Sainte-Marguerite, 13009 Marseille, France.
authors.forename: L
authors.initials: L
authors.lastname: Filosa
authors.affiliation: Laboratoire d'hématologie moléculaire, Établissement français du sang (EFS) Alpes-Méditerranée, 207, boulevard Sainte-Marguerite, 13009 Marseille, France; UMR 7268 ADÉS Aix-Marseille université - EFS - CNRS, 13009 Marseille, France.
authors.forename: J
authors.initials: J
authors.lastname: Chiaroni
authors.affiliation: Laboratoire d'hématologie moléculaire, Établissement français du sang (EFS) Alpes-Méditerranée, 207, boulevard Sainte-Marguerite, 13009 Marseille, France; UMR 7268 ADÉS Aix-Marseille université - EFS - CNRS, 13009 Marseille, France. Electronic address: pascal.bailly@efs.sante.fr.
authors.forename: P
authors.initials: P
authors.lastname: Bailly
mesh_terms: D000483:Alleles; D001789:Blood Group Antigens / Q000235:genetics*; D001788:Blood Grouping and Crossmatching; D004247:DNA / Q000235:genetics; D017707:Erythrocyte Transfusion; D005602:France; D005787:Gene Frequency; D005838:Genotype; D060005:Genotyping Techniques / Q000706:statistics & numerical data; D006801:Humans; D010641:Phenotype; D012189:Retrospective Studies; D012204:Rh-Hr Blood-Group System / Q000235:genetics; D065227:Transfusion Reaction / Q000517:prevention & control
chemical_list: D001789:Blood Group Antigens; D012204:Rh-Hr Blood-Group System; D004247:DNA
keywords: Extended genotyping; Génotypage érythrocytaire; Génotypage étendu; Immune-hematology for recipients; Immuno-hématologie receveur; Médecine transfusionnelle; RH variant; Red blood group genotyping; Transfusional medicine; Variant RH