RH genotyping in a sickle cell disease patient contributing to hematopoietic stem cell transplantation donor selection and management.

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.

DOI: 10.1182/blood-2010-04-279372

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Cite this paper

@article{Fasano2010RHGI, title={RH genotyping in a sickle cell disease patient contributing to hematopoietic stem cell transplantation donor selection and management.}, author={Ross M. Fasano and Alessandro Monaco and Emily Riehm Meier and Philippe Pary and A. Hallie Lee-Stroka and John Otridge and Harvey G. Klein and Francesco M. Marincola and Naynesh R. Kamani and Naomi L. C. Luban and David F Stroncek and Willy Albert Flegel}, journal={Blood}, year={2010}, volume={116 15}, pages={2836-8} }