Red Blood Cell Antigen Genotyping for Sickle Cell Disease, Thalassemia, and Other Transfusion Complications

Serological weak D phenotypes: a review and guidance for interpreting the RhD blood type using the RHD genotype

“…Currently, in the United States, most RHD genotyping is performed in reference laboratories and, therefore, the turnaround time is more than one day, excluding the procedure for patients requiring an urgent transfusion. For patients requiring chronic transfusions, for example, sickle cell disease, thalassaemia and myelodysplastic syndrome, the results of once-in-a-lifetime RHD genotyping may not be available in time for the current transfusion, but would be available for future transfusions (Fasano & Chou, 2016; Chou et al , 2013; ). New methods for blood group genotyping, for example, direct polymerase chain reaction (PCR) amplification without DNA extraction, offer the promise of reducing the time for RHD genotyping to minutes, making RHD genotyping feasible for real-time application in the hospital (Wagner et al , 2017).…”

Hemoglobin A clearance in children with sickle cell anemia on chronic transfusion therapy

“…14 RBC genotyping of recipients and donors offers several advantages over serologic antigen typing in attempts to minimize alloimmunization, including the identification of a greater number of antigens for which antisera are not available (e.g., Js a /Js b , Kp a /Kp b , V, VS), and the ability to obtain accurate antigen typing in patients with recent RBC transfusion or with RBC alloantibodies or autoantibodies. 15 HTRs are an extreme example of rapid clearance of transfused RBCs, mediated by antibody production and complement activation. Although HTRs and alloimmunization events result in increased HbA clearance, it is not known if RBC antigen mismatches independently influence HbA clearance in the absence of serologically detected RBC antibodies.…”

Erythrogene: a database for in-depth analysis of the extensive variation in 36 blood group systems in the 1000 Genomes Project

“…15 These methods complement serology and improve blood group matching but have built-in limitations in the number of variants they can detect. 16,17 Next-generation sequencing (NGS) has the potential to redress these limitations and is being implemented for HLA analysis in tissue typing reference laboratories. 18 Similarly, NGS is rapidly moving toward routine practice for patient and donor blood group typing, 19,20 yet a large worldwide survey of genomic blood group variation is lacking.…”