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Frequency and characterization of RHD and RHCE variants in the Noir Marron population from French Guiana.

Laurine LagetCaroline IzardElisabeth Durieux-RousselLugdivine FilosaPascal BaillyStéphane MazièresJacques Chiaroni
Published in: Transfusion (2022)
Significant allelic diversity was shown, with 45% of individuals presenting an RHD gene variant (most common: RHD*DAU, RHD*DIVa, and RHD*DIIIa allele) and 9.4% with a partial D phenotype. Likewise, 85% presenting an RHCE gene variant and 9% a partial RH2 antigen. One original allele was identified in two D+ Noir Marron individuals: a hybrid RHD*DIIIa-CE(9)-D allele, encoding probably a partial D antigen and associated with an RHCE*ce(48C,733G,1006T) allele. The African diversity of RHD and RHCE genes is found in this population with preserved genetic but mixed cultural backgrounds. These data allow us to describe the characteristics of the RH system antigen and highlights a significant number of partial antigens with a risk of alloimmunization.
Keyphrases
  • genome wide
  • copy number
  • genome wide identification
  • electronic health record
  • dendritic cells
  • gene expression
  • machine learning
  • sickle cell disease
  • data analysis