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

Ross M. Fasano, Alessandro Monaco, Emily Riehm Meier, Philippe Pary, A. Hallie Lee-Stroka, John Otridge, Harvey G. Klein, Francesco M. Marincola, Naynesh R. Kamani, Naomi L C Luban, David Stroncek, Willy A. Flegel

Research output: Contribution to journalArticlepeer-review

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)ces 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.

Original languageEnglish (US)
Pages (from-to)2836-2838
Number of pages3
JournalBlood
Volume116
Issue number15
DOIs
StatePublished - Oct 14 2010
Externally publishedYes

ASJC Scopus subject areas

  • Hematology
  • Biochemistry
  • Cell Biology
  • Immunology
  • Medicine(all)

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