title: Clinically relevant RHD-CE genotypes in patients with sickle cell disease and in African Brazilian donors.
abstract: As a consequence of the homology and opposite orientation of RHD and RHCE, numerous gene rearrangements have occurred in Africans and resulted in altered RH alleles that predict partial antigens, contributing to the high rate of Rh alloimmunisation among patients with sickle cell disease (SCD). In this study, we characterised variant RH alleles encoding partial antigens and/or lacking high prevalence antigens in patients with SCD and in African Brazilian donors, in order to support antigen-matched blood for transfusion.
  
  
  
  RH genotypes were determined in 168 DNA samples from SCD patients and 280 DNA samples from African Brazilian donors. Laboratory developed tests, RHD BeadChip(TM), RHCE BeadChip(TM), cloning and sequencing were used to determine RHD-CE genotypes among patients and African Brazilian blood donors.
  
  
  
  The distributions of RHD and RHCE alleles in donors and patients were similar. We found RHCE variant alleles inherited with altered RHD alleles in 25 out of 168 patients (15%) and in 22 out of 280 (7.8%) African Brazilian donors. The RHD and RHCE allele combinations found in the population studied were: RHD*DAR with RHCE*ceAR; RHD*weak D type 4.2.2 with RHCE*ceAR, RHD*weak D type 4.0 with RHCE*ceVS.01 and RHCE*ceVS.02; RHD*DIIIa with RHCE*ceVS.02. Thirteen patients and six donors had RHD-CE genotypes with homozygous or compound heterozygous alleles predicting partial antigens and/or lacking high prevalence antigens. Eleven patients were alloimmunised to Rh antigens. For six patients with RHD-CE genotypes predicting partial antigens, no donors with similar genotypes were found.
  
  
  
  Knowledge of the distribution and prevalence of RH alleles in patients with SCD and donors of African origin may be important for implementing a programme for RH genotype matching in SCD patients with RH variant alleles and clinically significant Rh antibodies.
authors.affiliation: Campinas Blood Centre, Unicamp, Campinas, São Paulo, Brazil.
authors.forename: Ane C
authors.initials: AC
authors.lastname: Gaspardi
authors.affiliation: Campinas Blood Centre, Unicamp, Campinas, São Paulo, Brazil.
authors.forename: Emília A
authors.initials: EA
authors.lastname: Sippert
authors.affiliation: Campinas Blood Centre, Unicamp, Campinas, São Paulo, Brazil.
authors.forename: Mayra Dorigan
authors.initials: MD
authors.lastname: De Macedo
authors.affiliation: Campinas Blood Centre, Unicamp, Campinas, São Paulo, Brazil.
authors.forename: Jordão
authors.initials: J
authors.lastname: Pellegrino
authors.affiliation: Campinas Blood Centre, Unicamp, Campinas, São Paulo, Brazil.
authors.forename: Fernando F
authors.initials: FF
authors.lastname: Costa
authors.affiliation: Campinas Blood Centre, Unicamp, Campinas, São Paulo, Brazil.
authors.forename: Lilian
authors.initials: L
authors.lastname: Castilho
mesh_terms: D000328:Adult; D000483:Alleles; D000755:Anemia, Sickle Cell / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology / Q000628:therapy; D044383:Black People / Q000235:genetics; D001782:Blood Donors; D001938:Brazil / Q000453:epidemiology; D017707:Erythrocyte Transfusion; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007518:Isoantibodies / Q000276:immunology; D008297:Male; D012204:Rh-Hr Blood-Group System / Q000235:genetics* / Q000276:immunology
chemical_list: D007518:Isoantibodies; C033242:RH-antibodies; C066468:RHCE protein, human; D012204:Rh-Hr Blood-Group System