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

Blood
Ross M FasanoWilly A Flegel

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.

References

Jan 15, 2002·Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation·M C WaltersUNKNOWN Multicenter Investigation of Bone Marrow Transplantation for Sickle Cell Disease
Sep 5, 2002·The American Journal of Medicine·Eldad S Bialecki, Kenneth R Bridges
Dec 14, 2004·Bone Marrow Transplantation·S ShenoyR J Hayashi
Jul 25, 2009·Transfusion·Bach-Nga PhamPierre-Yves Le Pennec
Sep 26, 2009·Transfusion·Christophe TournamilleFrance Noizat-Pirenne

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Citations

Apr 27, 2012·Advances in Hematology·Kenneth A FoonPier L Zinzani
May 3, 2014·Archives of Pathology & Laboratory Medicine·Willy A FlegelAshok Tholpady
Oct 29, 2015·Transfusion·Robert Sheppard NickelSean R Stowell
Oct 26, 2011·Transfusion clinique et biologique : journal de la Société française de transfusion sanguine·F Noizat-Pirenne, C Tournamille
Jan 4, 2012·Transfusion Medicine·B R CruzJ O Bordin
Jul 31, 2013·British Journal of Haematology·Gregory A Denomme
May 9, 2012·Stem Cells International·Carolyn WhitsettGiuliano Grazzini
Aug 3, 2016·Transfusion·Kshitij SrivastavaWilly Albert Flegel
Oct 7, 2016·Laboratory Medicine·Stephanie N KinneyDan A Waxman
Oct 21, 2017·Therapeutic Advances in Hematology·Gregory A DenommeWilly A Flegel
Dec 8, 2017·Journal of Human Genetics·Kshitij SrivastavaWilly Albert Flegel
Feb 28, 2019·Blood·Connie M Westhoff
Nov 24, 2019·Transfusion·Nancy L Van BurenConnie M Westhoff
Feb 19, 2020·Annals of Laboratory Medicine·Sooin ChoiDuck Cho
Oct 25, 2020·Transfusion·Kshitij SrivastavaWilly A Flegel
Dec 15, 2019·Seminars in Hematology·Jamal H Carter, Willy A Flegel

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