The molecular basis of almost all red cell and platelet
blood group antigens is known. This enables the prediction
of red cell or platelet phenotypes based upon the
genotypes. In many laboratories, blood group genotyping
assays are routinely used in cases where patient red
cells cannot be used for serological typing due to the
presence of autoantibodies (direct antiglobulin test
(DAT)-positive) or after recent transfusion. Furthermore,
fetal genotyping is routinely performed where there is a
risk of alloimmune-mediated red cell or platelet destruction.
In the Netherlands, medium-throughput human
platelet antigen (HPA) genotyping has been introduced
in the blood banks to guarantee direct (on-shelf) availability
of HPA-1a- and HPA-5b-negative platelets for newborns
suffering from neonatal alloimmune thrombocytopenia.
The techniques used, pyrosequencing and Taq-
Man-based allele-specific hybridization assay, are discussed
in this review. Recently, several research groups
investigated whether red cell molecular typing could also
be introduced for large-scale blood donor typing to obtain
and maintain an inventory of typed (antigen-negative)
donors. The reason for this is that phenotyping of
large cohorts of donors is a labor-intensive exercise and
hampered by the lack of sufficient amounts of approved
typing reagents for all blood group systems of interest.
Several approaches for high-throughput genotyping,
based on DNA microarrays spotted on glass slides or
beads, have now been tested and are also discussed in
this review.