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Typing Blood Group Variants from Whole-Genome Sequencing Data

May 30, 2018

Serological testing for ABO and RhD blood group compatibility has been standard practice for at least 60 years. ABO and RhD blood group antigen matching between blood donors and recipients decreases the risk of hemolytic transfusion reactions, alloimmunization, and other serious complications including death.  However, more than 300 other RBC antigens and 33 platelet antigens exist which can also cause serious reactions. Since serological reagents are not available for all antigens and individual antigen tests would be costly and cumbersome, researchers have developed a new curated antigen allele database (http://bloodantigens.com) and an algorithm to automatically type blood group variants from whole-genome sequencing data in one reaction.  After improving the initial algorithm, the software was tested with 200 participants and found to be 99.9% concordant with serological tests (3486 correct phenotype calls out of 3490 individual antigen typings).  This proof-of-principle algorithm may eventually facilitate typing multiple blood group antigens and transform blood compatibility safety for transfusion patients.

References:

  1. Lane WJ, Westhoff CM, Gleadall SN, Aguad M, et al. Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study. Lancet Heamatology 2018
  2. Flower R, Roulis E, and C Hyland. Whole-genome sequencing algorithm for blood-group typing. Lancet Heamatology 2018

Filed Under

  • News
  • Serology/Genotyping

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