Blood group genotyping

Connie M. Westhoff


Genomics is impacting all areas of medicine. In transfusion medicine, DNA-based genotyping is being used as an alternative to serological antibody-based methods to determine blood groups for matching donor to recipient. Most antigenic polymorphisms are due to single nucleotide changes (SNP's) in the respective genes and DNA-arrays that target these changes have been validated by comparison with antibody-based typing. Importantly, the ability to test for antigens for which there are no serologic reagents is a major medical advance to identify antibodies and to find compatible donor units and can be life-saving. This review summarizes the evolving use and applications of genotyping for red cell (RBC) and platelet blood group antigens impacting several areas of medicine. These include prenatal medicine for evaluating risk of fetal or neonatal disease and candidates for Rh immune globulin (RhIg); transplantation for bone marrow donor selection and transfusion support for highly alloimmunized patients, and for confirmation of A2 status of kidney donors; hematology for comprehensive typing for patients with anemia requiring chronic transfusion; and oncology for patients receiving monoclonal antibody therapies that interfere with pre-transfusion testing. A genomics approach allows, for the first time, the ability to routinely select donor units antigen-matched to recipients for more than ABO/RhD to reduce complications. Of relevance, the growth of whole genome sequencing (WGS) in chronic disease and for general health will provide the patient's comprehensive extended blood group profile as part of their medical record to be used to inform selection of the optimal transfusion therapy.

  • Submitted November 21, 2018.
  • Accepted January 24, 2019.