Identification of RHCE and KEL alleles in large cohorts of Afro-Caribbean and Comorian donors by multiplex SNaPshot and fragment assays: A transfusion support for sickle cell disease patients

British Journal of Haematology

Volumn 154, Issue 2, 2011, Pages 260-270

  Silvy, Monique ^a   Di Cristofaro, Julie ^a   Beley, Sophie ^a   Papa, Kassim ^a   Rits, Michel ^a   Richard, Pascale ^a   Chiaroni, Jacques ^a   Bailly, Pascal ^a  

^a ETABLISSEMENT FRANÇAIS DU SANG   (France)

Author keywords

African origin population; Genotype; KEL gene variants; RHCE gene variants; SNaPshot

Indexed keywords

GENOMIC DNA;

AFRICAN CARIBBEAN; ALLOIMMUNIZATION; AMINO ACID SUBSTITUTION; ANTIBODY PRODUCTION; ANTIGEN EXPRESSION; ARTICLE; BLOOD COMPATIBILITY; BLOOD DONOR; BLOOD TRANSFUSION; COHORT ANALYSIS; COMORIAN; CONTROLLED STUDY; ETHNIC GROUP; FRANCE; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HOMOZYGOTE; HUMAN; KEL GENE; MAJOR CLINICAL STUDY; MARTINIQUE; MULTIPLEX FRAGMENT ASSAY; MULTIPLEX SNAPSHOT ASSAY; PRIORITY JOURNAL; PROSPECTIVE STUDY; RELIABILITY; RHCE GENE; RISK REDUCTION; SENSITIVITY AND SPECIFICITY; SICKLE CELL ANEMIA; SINGLE NUCLEOTIDE POLYMORPHISM; VALIDATION PROCESS;

AFRICAN CONTINENTAL ANCESTRY GROUP; ALLELES; ANEMIA, SICKLE CELL; BLOOD DONORS; BLOOD GROUPING AND CROSSMATCHING; BLOOD TRANSFUSION; ELECTROPHORESIS, CAPILLARY; EPIDEMIOLOGIC METHODS; GENE FREQUENCY; GENOTYPE; HUMANS; KELL BLOOD-GROUP SYSTEM; POLYMERASE CHAIN REACTION; RH-HR BLOOD-GROUP SYSTEM;

EID: 79959832378     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2011.08691.x     Document Type: Article

References (44)

1. Avent, N.D. & Reid, M.E. (2000) The Rh blood group system: a review. Blood, 95, 375-387.
2. Aygun, B., Padmanabhan, S., Paley, C. & Chandrasekaran, V. (2002) Clinical significance of RBC alloantibodies and autoantibodies in sickle cell patients who received transfusions. Transfusion, 42, 37-43.
3. Chiaroni, J., Touinssi, M., Frassati, C., Degioanni, A., Gibert, M., Reviron, D., Mercier, P. & Boetsch, G. (2004) Genetic characterization of the population of Grande Comore Island (Njazidja) according to major blood groups. Human Biology, 76, 527-541.
4. Chou, S.T. & Westhoff, C.M. (2009) Molecular biology of the Rh system: clinical considerations for transfusion in sickle cell disease. American Society of Hematology. Education Program, 1, 178-184.
5. Daniels, G. (2002) Human Blood Groups. Blackwell Science, Oxford.
6. Daniels, G.L., Faas, B.H., Green, C.A., Smart, E., Maaskant-van Wijk, P.A., Avent, N.D., Zondervan, H.A., von dem Borne, A.E. & van der Schoot, C.E. (1998) The VS and V blood group polymorphisms in Africans: a serologic and molecular analysis. Transfusion, 38, 951-958.
7. Di Cristofaro, J., Silvy, M., Chiaroni, J. & Bailly, P. (2010) Single PCR multiplex SNaPshot reaction for detection of eleven blood group nucleotide polymorphisms: optimization, validation, and one year of routine clinical use. Journal of Molecular Diagnostics, 12, 453-460.
8. Faas, B.H., Beckers, E.A., Wildoer, P., Ligthart, P.C., Overbeeke, M.A., Zondervan, H.A., von dem Borne, A.E. & van der Schoot, C.E. (1997) Molecular background of VS and weak C expression in blacks. Transfusion, 37, 38-44.
9. Flickinger, C. (2006) In search of red blood cells for alloimmunized patients with sickle cell disease. Immunohematology, 22, 136-142.
10. Giblett, E.R. (1958) Js, a new blood group antigen found in Negroes. Nature, 181, 1221-1222.
11. Guelsin, G.A., Sell, A.M., Castilho, L., Masaki, V.L., Melo, F.C., Hashimoto, M.N., Higa, T.T., Hirle, L.S. & Visentainer, J.E. (2010) Benefits of blood group genotyping in multi-transfused patients from the south of Brazil. Journal of Clinical Laboratory Analysis, 24, 311-316.
12. Halter-Hipsky, C., Hue-Roye, K., Coghlan, G., Lomas-Francis, C. & Reid, M.E. (2009) Two alleles with RHCE*nt818C>T change encode the low prevalence Rh antigen STEM. Blood (ASH Annual Meeting Abstracts), 114, Abstract 3159.
13. Hemker, M.B., Ligthart, P.C., Berger, L., van Rhenen, D.J., van der Schoot, C.E. & Wijk, P.A. (1999) 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, 94, 4337-4342.
14. Higgins, J.M. & Sloan, S.R. (2008) Stochastic modeling of human RBC alloimmunization: evidence for a distinct population of immunologic responders. Blood, 112, 2546-2553.
15. Hillyer, C.D., Shaz, B.H., Winkler, A.M. & Reid, M. (2008) Integrating molecular technologies for red blood cell typing and compatibility testing into blood centers and transfusion services. Transfusion Medicine Reviews, 22, 117-132.
16. Huang, C.H., Johe, K., Moulds, J.J., Siebert, P.D., Fukuda, M. & Blumenfeld, O.O. (1987) Delta glycophorin (glycophorin B) gene deletion in two individuals homozygous for the S--s--U-- blood group phenotype. Blood, 70, 1830-1835.
17. Isaak, E.J., LeChien, B., Lindsey, T. & Debaun, M.R. (2006) The Charles Drew program in Missouri: a description of a partnership among a blood center and several hospitals to address the care of patients with sickle cell disease. Immunohematology, 22, 112-116.
18. Le Pennec, P.Y., Rouger, P., Klein, M.T., Kornprobst, M., Brossard, Y., Boizard, B. & Salmon, C. (1989) A serologic study of red cells and sera from 18 Rh:32, -46 (RN/RN) persons. Transfusion, 29, 798-802.
19. Lee, S. (1997) Molecular basis of Kell blood group phenotypes. Vox Sanguinis, 73, 1-11.
20. Lomas-Francis, C., Alcantara, D., Westhoff, C., Uehlinger, J., Valvasori, M., Castilho, L. & Reid, M.E. (2009) JAL (RH48) blood group antigen: serologic observations. Transfusion, 49, 719-724.
21. Noizat-Pirenne, F. (2003) Immunohematologic characteristics in the Afro-caribbean population. Consequences for transfusion safety. Transfusion Clinique et Biologique, 10, 185-191.
22. Noizat-Pirenne, F., Mouro, I., Le Pennec, P.Y., Ansart-Pirenne, H., Juszczak, G., Patereau, C., Verdier, M., Babinet, J., Roussel, M., Rouger, P. & Cartron, J.P. (2001) Two new alleles of the RHCE gene in Black individuals: the RHce allele ceMO and the RHcE allele cEMI. British Journal of Haematology, 113, 672-679.
23. Noizat-Pirenne, F., Lee, K., Pennec, P.Y., Simon, P., Kazup, P., Bachir, D., Rouzaud, A.M., Roussel, M., Juszczak, G., Menanteau, C., Rouger, P., Kotb, R., Cartron, J.P. & Ansart-Pirenne, H. (2002) Rare RHCE phenotypes in black individuals of Afro-Caribbean origin: identification and transfusion safety. Blood, 100, 4223-4231.
24. Ong, J., Walker, P.S., Schmulbach, E., Storry, J.R., Vege, S., Westhoff, C., Lomas-Francis, C. & Reid, M.E. (2009) Alloanti-c in a c-positive, JAL-positive patient. Vox Sanguinis, 96, 240-243.
25. Peyrard, T., Pham, B.N., Poupel, S., Martin-Blanc, S., Auxerre, C., Kappler-Gratias, S., Bonin, P., Rouger, P. & Le Pennec, P.Y. (2009) Alloanti-c/ce in a c+ceAR/Ce patient suggests that the rare RHCE ceAR allele (ceAR) encodes a partial c antigen. Transfusion, 49, 2406-2411.
26. Pham, B.N., Peyrard, T., Juszczak, G., Dubeaux, I., Gien, D., Blancher, A., Cartron, J.P., Rouger, P. & Le Pennec, P.Y. (2009a) Heterogeneous molecular background of the weak C, VS+, hr B-, Hr B- phenotype in black persons. Transfusion, 49, 495-504.
27. Pham, B.N., Peyrard, T., Juszczak, G., Auxerre, C., Godin, S., Bonin, P., Rouger, P. & Le Pennec, P.Y. (2009b) Alloanti-c (RH4) revealing that the (C)ce s haplotype encodes a partial c antigen. Transfusion, 49, 1329-1334.
28. Pham, B.N., Peyrard, T., Juszczak, G., Beolet, M., Deram, G., Martin-Blanc, S., Dubeaux, I., Roussel, M., Kappler-Gratias, S., Gien, D., Poupel, S., Rouger, P. & Le Pennec, P.Y. (2011) Analysis of RhCE variants among 806 individuals in France: considerations for transfusion safety, with emphasis on patients with sickle cell disease. Transfusion, doi:.
29. Poulter, M., Kemp, T.J. & Carritt, B. (1996) DNA-based rhesus typing: simultaneous determination of RHC and RHD status using the polymerase chain reaction. Vox Sanguinis, 70, 164-168.
30. Reid, M.E. (2007) Overview of molecular methods in immunohematology. Transfusion, 47, 10S-16S.
31. Reid, M.E., Storry, J.R., Issitt, P.D., Combs, M.R., Beal, C.L., Mallory, D.A. & Blancher, A. (1997) Rh haplotypes that make e but not hrB usually make VS. Vox Sanguinis, 72, 41-44.
32. Ribeiro, K.R., Guarnieri, M.H., da Costa, D.C., Costa, F.F., Pellegrino, J., Jr & Castilho, L. (2009) DNA array analysis for red blood cell antigens facilitates the transfusion support with antigen-matched blood in patients with sickle cell disease. Vox Sanguinis, 97, 147-152.
33. Rouillac, C., Gane, P., Cartron, J., Le Pennec, P.Y., Cartron, J.P. & Colin, Y. (1996) Molecular basis of the altered antigenic expression of RhD in weak D(Du) and RhC/e in RN phenotypes. Blood, 87, 4853-4861.
34. Silvy, M., Simon, S., Gouvitsos, J., Cristofaro, J.D., Ferrera, V., Chiaroni, J. & Bailly, P. (2011) Weak D and DEL alleles detected by routine SNaPshot genotyping: identification of four novel RHD alleles. Transfusion, 51, 401-411.
35. Singleton, B.K., Green, C.A., Avent, N.D., Martin, P.G., Smart, E., Daka, A., Narter-Olaga, E.G., Hawthorne, L.M. & Daniels, G. (2000) 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, 95, 12-18.
36. Sosler, S.D., Jilly, B.J., Saporito, C. & Koshy, M. (1993) A simple, practical model for reducing alloimmunization in patients with sickle cell disease. American Journal of Hematology, 43, 103-106.
37. Storry, J.R., Reid, M.E., Fetics, S. & Huang, C.H. (2003) Mutations in GYPB exon 5 drive the S-s-U+(var) phenotype in persons of African descent: implications for transfusion. Transfusion, 43, 1738-1747.
38. Tahhan, H.R., Holbrook, C.T., Braddy, L.R., Brewer, L.D. & Christie, J.D. (1994) Antigen-matched donor blood in the transfusion management of patients with sickle cell disease. Transfusion, 34, 562-569.
39. Tournamille, C., Meunier-Costes, N., Costes, B., Martret, J., Barrault, A., Gauthier, P., Galacteros, F., Nzouekou, R., Bierling, P. & Noizat-Pirenne, F. (2010) Partial C antigen in sickle cell disease patients: clinical relevance and prevention of alloimmunization. Transfusion, 50, 13-19.
40. Vege, S. & Westhoff, C.M. (2006) Molecular characterization of GYPB and RH in donors in the American Rare Donor Program. Immunohematology, 22, 143-147.
41. Vichinsky, E.P., Luban, N.L., Wright, E., Olivieri, N., Driscoll, C., Pegelow, C.H. & Adams, R.J. (2001) Prospective RBC phenotype matching in a stroke-prevention trial in sickle cell anemia: a multicenter transfusion trial. Transfusion, 41, 1086-1092.
42. Wayne, A.S., Kevy, S.V. & Nathan, D.G. (1993) Transfusion management of sickle cell disease. Blood, 81, 1109-1123.
43. Westhoff, C.M. (2008) 2007 Rock Oyen Symposium: the potential of blood group genotyping for transfusion medecine practice. Immunohematology, 24, 190-195.
44. Westhoff, C.M., Vege, S., Halter-Hipsky, C., Whorley, T., Hue-Roye, K., Lomas-Francis, C. & Reid, M.E. (2010) DIIIa and DIII Type 5 are encoded by the same allele and are associated with altered RHCE*ce alleles: clinical implications. Transfusion, 50, 1303-1311.