RH genotyping in a sickle cell disease patient contributing to hematopoietic stem cell transplantation donor selection and management.
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.
Fasano
Ross M
RM
Children's National Medical Center, Washington, DC, USA.
Monaco
Alessandro
A
Meier
Emily Riehm
ER
Pary
Philippe
P
Lee-Stroka
A Hallie
AH
Otridge
John
J
Klein
Harvey G
HG
Marincola
Francesco M
FM
Kamani
Naynesh R
NR
Luban
Naomi L C
NL
Stroncek
David
D
Flegel
Willy A
WA
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*
D012204:Rh-Hr Blood-Group System