title: 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.
authors.affiliation: Children's National Medical Center, Washington, DC, USA.
authors.forename: Ross M
authors.initials: RM
authors.lastname: Fasano
authors.forename: Alessandro
authors.initials: A
authors.lastname: Monaco
authors.forename: Emily Riehm
authors.initials: ER
authors.lastname: Meier
authors.forename: Philippe
authors.initials: P
authors.lastname: Pary
authors.forename: A Hallie
authors.initials: AH
authors.lastname: Lee-Stroka
authors.forename: John
authors.initials: J
authors.lastname: Otridge
authors.forename: Harvey G
authors.initials: HG
authors.lastname: Klein
authors.forename: Francesco M
authors.initials: FM
authors.lastname: Marincola
authors.forename: Naynesh R
authors.initials: NR
authors.lastname: Kamani
authors.forename: Naomi L C
authors.initials: NL
authors.lastname: Luban
authors.forename: David
authors.initials: D
authors.lastname: Stroncek
authors.forename: Willy A
authors.initials: WA
authors.lastname: Flegel
mesh_terms: D001741:Black or African American / Q000235:genetics; D000755:Anemia, Sickle Cell / Q000097:blood / Q000235:genetics* / Q000628:therapy*; D002648:Child; D046148:Donor Selection; D017707:Erythrocyte Transfusion; D005838:Genotype; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D012204:Rh-Hr Blood-Group System / Q000235:genetics*
chemical_list: D012204:Rh-Hr Blood-Group System