Relevance of RH variants in transfusion of sickle cell patients

Transfusion Clinique et Biologique

Volumn 18, Issue 5-6, 2011, Pages 527-535

  Noizat Pirenne, F ^a,b   Tournamille, C ^a,b  

^a ETABLISSEMENT FRANÇAIS DU SANG   (France)

^b INSERM   (France)

Author keywords

Blood groups; Hemolysis; Immunisation; RH; Sickle cell disease; Variants

Indexed keywords

RHESUS ANTIGEN;

ALLOIMMUNIZATION; BLOOD GROUP RHESUS SYSTEM; BLOOD TRANSFUSION; BLOOD TRANSFUSION REACTION; DNA DETERMINATION; ETHNICITY; GENE EXPRESSION; GENE FREQUENCY; GENE PRODUCT; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IMMUNIZATION; MISSENSE MUTATION; PHENOTYPE; POINT MUTATION; RHCE GENE; RHD GENE; RISK FACTOR; SHORT SURVEY; SICKLE CELL ANEMIA;

AFRICAN CONTINENTAL ANCESTRY GROUP; ANEMIA, SICKLE CELL; BLOOD DONORS; BLOOD GROUP INCOMPATIBILITY; BLOOD TRANSFUSION; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENE FREQUENCY; GENETIC VARIATION; HUMANS; ISOANTIBODIES; RH ISOIMMUNIZATION; RH-HR BLOOD-GROUP SYSTEM;

EID: 82555187814     PISSN: 12467820     EISSN: 19538022     Source Type: Journal    
DOI: 10.1016/j.tracli.2011.09.001     Document Type: Short Survey

References (49)

1. Ohene-Frempong K. Indications for red cell transfusion in sickle cell disease. Semin Hematol. 2001, 38:5-13.
2. Moreira Junior G., Bordin J.O., Kuroda A., Kerbauy J. Red blood cell alloimmunization in sickle cell disease: the influence of racial and antigenic pattern differences between donors and recipients in Brazil. Am J Hematol. 1996, 52:197-200.
3. Murao M., Viana M.B. Risk factors for alloimmunization by patients with sickle cell disease. Braz J Med Biol Res. 2005, 38:675-682.
4. Vichinsky E.P. Current issues with blood transfusions in sickle cell disease. Semin Hematol. 2001, 38:14-22.
5. Meunier N., Rodet M., Bonin P., Chadebech P., Chami B., Lee K., et al. Study of 206 transfused sickle cell disease patients: immunization, transfusion safety and red blood cell supply. Transfus Clin Biol. 2008, 15:377-382.
6. Natukunda B., Schonewille H., Ndugwa C., Brand A. Red blood cell alloimmunization in sickle cell disease patients in Uganda. Transfusion. 2010, 50:20-25.
7. Vichinsky E.P., Luban N.L., Wright E., Olivieri N., Driscoll C., Pegelow C.H., et al. Prospective RBC phenotype matching in a stroke-prevention trial in sickle cell anemia: a multicenter transfusion trial. Transfusion. 2001, 41:1086-1092.
8. Schonewille H., van de Watering L.M., Brand A. Additional red blood cell alloantibodies after blood transfusions in a nonhematologic alloimmunized patient cohort: is it time to take precautionary measures?. Transfusion. 2006, 46:630-635.
9. Westhoff C.M. Rh complexities: serology and DNA genotyping. Transfusion. 2007, 47:17S-22S.
10. Daniels G. Molecular blood grouping. Vox Sang. 2004, 87:63-66.
11. Hillyer C.D., Shaz B.H., Winkler A.M., Reid M. Integrating molecular technologies for red blood cell typing and compatibility testing into blood centers and transfusion services. Transfus Med Rev. 2008, 22:117-132.
12. Moulds J.M. Future of molecular testing for red blood cell antigens. Clin Lab Med. 2010, 30:419-429.
13. Veldhuisen B., van der Schoot C.E., de Haas M. Blood group genotyping: from patient to high-throughput donor screening. Vox Sang. 2009, 97:198-206.
14. Anstee D.J. Red cell genotyping and the future of pretransfusion testing. Blood. 2009, 114:248-256.
15. Mouro I., Colin Y., Cherif-Zahar B., Cartron J.P., Le Van Kim C. Molecular genetic basis of the human Rhesus blood group system. Nat Genet. 1993, 5:62-65.
16. Wagner F.F., Flegel W.A. RHCE represents the ancestral RH position, while RHD is the duplicated gene. Blood. 2002, 99:2272-2273.
17. Flegel W.A. Molecular genetics of RH and its clinical application. Transfus Clin Biol. 2006, 13:4-12.
18. Daniels G., Poole G., Poole J. Partial D and weak D: can they be distinguished?. Transfus Med. 2007, 17:145-146.
19. Flegel W.A., Curin-Serbec V., Delamaire M., Donvito B., Ikeda H., Jorgensen J., et al. Section 1B: Rh flow cytometry. Coordinator's report. Rhesus index and antigen density: an analysis of the reproducibility of flow cytometric determination. Transfus Clin Biol. 2002, 9:33-42.
20. Flegel W.A., von Zabern I., Doescher A., Wagner F.F., Strathmann K.P., Geisen C., et al. D variants at the RhD vestibule in the weak D type 4 and Eurasian D clusters. Transfusion. 2009, 49:1059-1069.
21. Wagner F.F., Frohmajer A., Ladewig B., Eicher N.I., Lonicer C.B., Muller T.H., et al. Weak D alleles express distinct phenotypes. Blood. 2000, 95:2699-2708.
22. Colin Y., Cherif-Zahar B., Le Van Kim C., Raynal V., Van Huffel V., Cartron J.P. Genetic basis of the RhD-positive and RhD-negative blood group polymorphism as determined by Southern analysis. Blood. 1991, 78:2747-2752.
23. Singleton B.K., Green C.A., Avent N.D., Martin P.G., Smart E., Daka A., et al. The presence of an RHD pseudogene containing a 37 base pair duplication and a nonsense mutation in africans with the Rh D-negative blood group phenotype. Blood. 2000, 95:12-18.
24. Faas B.H., Beckers E.A., Wildoer P., Ligthart P.C., Overbeeke M.A., Zondervan H.A., et al. Molecular background of VS and weak C expression in blacks. Transfusion. 1997, 37:38-44.
25. *ce alleles: clinical implications. Transfusion. 2010, 50:1303-1311.
26. Wagner F.F., Ladewig B., Angert K.S., Heymann G.A., Eicher N.I., Flegel W.A. The DAU allele cluster of the RHD gene. Blood. 2002, 100:306-311.
27. Flegel W.A. How I manage donors and patients with a weak D phenotype. Curr Opin Hematol. 2006, 13:476-483.
28. Wagner F.F., Moulds J.M., Tounkara A., Kouriba B., Flegel W.A. RHD allele distribution in Africans of Mali. BMC Genet. 2003, 4:14.
29. Hendrickson J.E., Chadwick T.E., Roback J.D., Hillyer C.D., Zimring J.C. Inflammation enhances consumption and presentation of transfused RBC antigens by dendritic cells. Blood. 2007, 110:2736-2743.
30. Hemker M.B., Ligthart P.C., Berger L., van Rhenen D.J., van der Schoot C.E., Wijk P.A. DAR, a new RhD variant involving exons 4, 5, and 7, often in linkage with ceAR, a new Rhce variant frequently found in African blacks. Blood. 1999, 94:4337-4342.
31. Castilho L., Rios M., Rodrigues A., Pellegrino J., Saad S.T., Costa F.F. High frequency of partial DIIIa and DAR alleles found in sickle cell disease patients suggests increased risk of alloimmunization to RhD. Transfus Med. 2005, 15:49-55.
32. Noizat-Pirenne F., Lee K., Pennec P.Y., Simon P., Kazup P., Bachir D., et al. Rare RHCE phenotypes in black individuals of Afro-Caribbean origin: identification and transfusion safety. Blood. 2002, 100:4223-4231.
33. *ceAR encodes a partial c (RH4) antigen. Immunohematology 2010, 26:57-59.
34. *ce 48C, 733G allele with Nucleotide 941C in Exon 7 encodes an altered red blood cell e antigen. Transfusion. 2011, 51:32-35.
35. *ceCF encodes partial c and partial e but not CELO, an antigen antithetical to Crawford. Transfusion. 2011, 51:25-31.
36. Ong J., Walker P.S., Schmulbach E., Storry J.R., Vege S., Westhoff C., et al. Alloanti-c in a c-positive, JAL-positive patient. Vox Sang. 2009, 96:240-243.
37. Tournamille C., Meunier-Costes N., Costes B., Martret J., Barrault A., Gauthier P., et al. Partial C antigen in sickle cell disease patients: clinical relevance and prevention of alloimmunization. Transfusion. 2010, 50:13-19.
38. Pham B.N., Peyrard T., Juszczak G., Auxerre C., Godin S., Bonin P., et al. Alloanti-c (RH4) revealing that the (C)ce s haplotype encodes a partial c antigen. Transfusion. 2009, 49:1329-1334.
39. Larson P.J., Lukas M.B., Friedman D.F., Manno C.S. Delayed hemolytic transfusion reaction due to anti-Go(a), an antibody against the low-prevalence Gonzales antigen. Am J Hematol. 1996, 53:248-250.
40. Rouillac C., Gane P., Cartron J., Le Pennec P.Y., Cartron J.P., Colin Y. Molecular basis of the altered antigenic expression of RhD in weak D(Du) and RhC/e in RN phenotypes. Blood. 1996, 87:4853-4861.
41. Reid M.E., Storry J.R., Sausais L., Tossas E., Rios M., Hue-Roye K., et al. DAK, a new low-incidence antigen in the Rh blood group system. Transfusion. 2003, 43:1394-1397.
42. Cox J.V., Steane E., Cunningham G., Frenkel E.P. Risk of alloimmunization and delayed hemolytic transfusion reactions in patients with sickle cell disease. Arch Intern Med. 1988, 148:2485-2489.
43. Chadebech P., Habibi A., Nzouakou R., Bachir D., Meunier-Costes N., Bonin P., et al. Delayed hemolytic transfusion reaction in sickle cell disease patients: evidence of an emerging syndrome with suicidal red blood cell death. Transfusion. 2009, 49:1785-1792.
44. Noizat-Pirenne F., Bachir D., Chadebech P., Michel M., Plonquet A., Lecron J.C., et al. Rituximab for prevention of delayed hemolytic transfusion reaction in sickle cell disease. Haematologica. 2007, 92:e132-e135.
45. de Montalembert M., Dumont M.D., Heilbronner C., Brousse V., Charrara O., Pellegrino B., et al. Delayed hemolytic transfusion reaction in children with sickle cell disease. Haematologica. 2011, 96:801-807.
46. Zimring J.C., Spitalnik S.L., Roback J.D., Hillyer C.D. Transfusion-induced autoantibodies and differential immunogenicity of blood group antigens: a novel hypothesis. Transfusion. 2007, 47:2189-2196.
47. Pham B.N., Peyrard T., Juszczak G., Beolet M., Deram G., Martin-Blanc S., et al. Analysis of RhCE variants among 806 individuals in France: considerations for transfusion safety, with emphasis on patients with sickle cell disease. Transfusion 2011, 51:1249-1260.
48. Fasano R.M., Monaco A., Meier E.R., Pary P., Lee-Stroka A.H., Otridge J., et al. RH genotyping in a sickle cell disease patient contributing to hematopoietic stem cell transplantation donor selection and management. Blood 2010, 116:2836-2838.
49. The Rhesus site [homepage on the Internet]. Available at: (15/9/2011). http://www.uni-ulm.de/~wflegel/RH/.