About 5% of the world’s population are carriers of haemoglobinopathies. Such patients require regular red blood cell transfusions and are often exposed to the risk of alloimmunization. Currently, identifying donors for patients with rare blood groups is extremely labor intensive requiring multiple tests.
More than 2000 alleles have been identified associated with differences in RBC phenotype or with antibody production. The International Society of Blood Transfusion (ISBT) Working Party for Red Cell Immunogenetics and Blood Group Terminology (ISBT WP) maintains an official record of all currently recognised blood group systems. There are currently 43 recognized blood group systems containing 349 red cell antigens (September 2022).
It is possible to determine all of these RBC and platelet antigens of interest from next-generation sequencing (NGS) of whole genomes or exomes or by targeting the specific blood group loci. The strength of this approach lies in the ability to detect all polymorphisms including null alleles, novel mutations, and complex gene arrangements, and to perform copy number analysis.
This comprehensive approach has advantages to resolve complex cases with the capability of identifying rare and novel blood group variants that would otherwise be unrecognized, particularly when the antibody specificity is uncertain or, importantly, when transfused RBC survival is compromised in the absence of detectable antibody.
Deep-HemeTyper is an automated and validated algorithm for genotyping and phenotyping 35 blood group systems using NGS data with a turnaround time optimized to predict over 1772 alleles in less than an hour.
DeepHemetyper provides fast and accurate interpretation of an individual's blood group systems with a turnaround time of 24 hours.
The algorithm has been validated with 85 anonymized samples with a concordance of over 98% with experimentally validated phenotypes.
The reporting is automated and can be customized based on the diagnostic laboratory requirements thereby increasing adoption rate, adding to efficiency of record keeping and avoiding possibilities for manual errors.