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  • Title: RH genotyping in a sickle cell disease patient contributing to hematopoietic stem cell transplantation donor selection and management.
    Author: Fasano RM, Monaco A, Meier ER, Pary P, Lee-Stroka AH, Otridge J, Klein HG, Marincola FM, Kamani NR, Luban NL, Stroncek D, Flegel WA.
    Journal: Blood; 2010 Oct 14; 116(15):2836-8. PubMed ID: 20644109.
    Abstract:
    African individuals harbor molecular RH variants, which permit alloantibody formation to high-prevalence Rh antigens after transfusions. Genotyping identifies such RH variants, which are often missed by serologic blood group typing. Comprehensive molecular blood group analysis using 3 genotyping platforms, nucleotide sequencing, and serologic evaluation was performed on a 7-year-old African male with sickle cell disease who developed an "e-like" antibody shortly after initiating monthly red blood cell (RBC) transfusions for silent stroke. Genotyping of the RH variant predicted a severe shortage of compatible RBCs for long-term transfusion support, which contributed to the decision for hematopoetic stem cell transplantation. RH genotyping confirmed the RH variant in the human leukocyte antigen-matched sibling donor. The patient's (C)ce(s) type 1 haplotype occurs in up to 11% of African American sickle cell disease patients; however, haplotype-matched RBCs were serologically incompatible. This case documents that blood unit selection should be based on genotype rather than one matching haplotype.
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