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Updated: Feb 24, 2026

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
Application of genomics for transfusion therapy in sickle cell anemia
Stella T Chou1, Connie M Westhoff2
1Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Abstract:
The application of genomic approaches is impacting all areas of laboratory testing including transfusion medicine. Use of DNA-based test methods is particularly applicable for red cell and platelet antigen typing as the majority of genes encoding the carrier proteins and carbohydrates are now known and were cloned in the 1990's. Many of the 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 conventional serologic typing. Here we review the advances in the last decade in the application of DNA-based genotyping to transfusion therapy, specifically in sickle cell anemia (SCA), and discuss the practical integration and the value of this approach to improve outcomes and prevent complications in this patient population. The ability to test for antigens for which there are no serologic reagents is a major medical advance that promises to mitigate transfusion related morbidity and mortality due to alloimmunization.
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