Unlike traditional serological testing, which relies on the presence of antibodies to detect antigens, genotyping analyzes DNA to determine an individual's blood group profile with high accuracy. This approach is particularly valuable in complex transfusion cases, such as in patients with multiple alloantibodies, hemoglobinopathies, or recent transfusions that can obscure serological results. Red cell genotyping enhances transfusion safety by enabling precise donor-recipient matching, reducing the risk of alloimmunization, and improving outcomes for patients requiring chronic transfusions, such as sickle cell disease and thalassemia.
Red cell genotyping by real-time PCR: Duffy blood group system (FY) genotyping showing the melting peaks at 63°C for 3 homozygous Fy(a−b+) samples (orange), 69°C for 3 homozygous Fy(a+b−) samples (green), and 3 heterozygous Fy(a+b+) samples (blue).[8]
As of June 2025, a total of 398 red cell antigens have been officially recognized by the ISBT.[11] Of these, 371 antigens are organized into 48 distinct human blood group systems. The remaining 27 serologically defined antigens have not yet been assigned to a blood group system. These include:
The 200 series (the Collections) contains 9 antigens that are biochemically, genetically or serologically similar, but whose genetic basis has not yet been discovered.
The 700 Series contains 16 antigens that do not fit into any system or collection and have an incidence of less than 1% across all human ethnic populations.
The 901 Series contains 2 antigens that also cannot be included in any system or collection and have an incidence of more than 90% across all human ethnic populations.
Red cell genotyping is preferred over blood group genotyping because it includes all antigens found on the red cell membrane, not just those officially recognized as blood group antigens.
^McCracken AA, Daly PA, Zolnick MR, Clark AM (1978). "Twins and Q-banded chromosome polymorphisms". Hum Genet. 45 (3): 253–8. doi:10.1007/BF00278724. PMID570167.{{cite journal}}: CS1 maint: multiple names: authors list (link)
^Franco RF, Simões BP, Guerreiro JF, Santos SE, Zago MA (1994). "Molecular bases of the ABO blood groups of Indians from the Brazilian Amazon region". Vox Sang. 67 (3): 299–301. doi:10.1111/j.1423-0410.1994.tb01255.x. PMID7863630.{{cite journal}}: CS1 maint: multiple names: authors list (link)
^Flegel WA, Wagner FF, Muller TH, Gassner C (1998). "Rh phenotype prediction by DNA typing and its application to practice". Transfus Med. 8 (4): 281–302. doi:10.1046/j.1365-3148.1998.00173.x. PMID9881423.{{cite journal}}: CS1 maint: multiple names: authors list (link)
^Wagner FF, Flegel WA, Bittner R, Döscher A (2017). "Molecular typing for blood group antigens within 40 min by direct polymerase chain reaction from plasma or serum". Br J Haematol. 176 (5): 814–821. doi:10.1111/bjh.14469. PMID27991657.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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