Molecular Matching Of Red Blood Cells Is Superior To Serological Matching In Sickle Cell Disease Patients

Objective: To evaluate the usefulness of DNA methods to provide a means to precisely genotypically match donor blood units for the antigen-negative type of 35 sickle cell disease patients. Methods: Red blood cell units were investigated for ABO, D, C, c, E, e, K, Fya, Fyb, Jka, Jkb, S, s, Dia and RH variants by performing a molecular array (Human Erythrocyte Antigen BeadChip™, BioArray Solutions), polymerase chain reaction followed by restriction fragment length polymorphism analysis and sequencing of patient samples and donor units that had been serologically matched based on the ABO, Rh and K phenotypes and the presence of antibodies. Results: Matches for 21 of 35 sickle cell disease patients presented discrepancies or mismatches for multiple antigens between the genotype profile and the antigen profile of their serologically-matched blood units. The main discrepancies or mismatches occurred in the RH, FY, JK and MNS systems. Eight Rh alloimmunized patients presented RHD and RHCE variants that had not been serologically identified. According to these results better matches were found for the patients with genotyped units and the patients benefited as shown by better in vivo red blood cell survival. Conclusion: Molecular matching is superior to serological matching in sickle cell disease patients, decreasing the risk of transfusion reactions, especially delayed transfusion reactions to existing alloantibodies and preventing alloimmunization.3513538Giblett, E.R., A critique of the theoretical hazard of inter- vs. intra-racial transfusion (1961) Transfusion, 1, pp. 233-238Davies, S.C., McWilliam, A.C., Hewitt, P.E., Devenish, A., Brozovic, M., Red cell alloimmunization in sickle cell disease (1986) Br J Haematol, 63 (2), pp. 241-245Reisner, E.G., Kostyu, D.D., Philips, G., Walker, C., Dawson, D.V., Alloantibody response in multiply transfused sickle cell patients (1986) Tissue Antigens, 30 (4), pp. 161-166Cox, J.V., Steane, E., Cunningham, G., Frenkel, E.P., Risk of alloimmunization and delayed hemolytic transfusion reactions in patients with sickle cell disease (1988) Arch Intern Med, 148 (11), pp. 2485-2489Rosse, W.F., Gallagher, D., Kinney, T.R., Castro, O., Dosik, H., Moohr, J., Wang, W., Levy, P.S., The cooperative study of sickle cell disease. Transfusion and alloimmunization in sickle cell disease (1990) Blood, 76 (7), pp. 1431-1437Vichinsky, E.P., Earles, A., Johnson, R.A., Hoag, M.S., William, A., Lubin, B., Alloimmunization in sickle cell anemia and transfusion of racially unmatched blood (1990) N Engl J Med, 322 (23), pp. 1617-1621. , Comment in: N Engl J Med. 1990323(20):1420-2N Engl J Med. 1990322(23):1666-1668Orlina, A.R., Sosler, S.D., Koshy, M., Problems of chronic transfusion in sickle cell disease (1991) J Clin Apher, 6 (4), pp. 234-240Sosler, S.D., Jilly, B.J., Saporito, C., Koshy, M., A simple, practical model for reducing alloimmunization in patients with sickle cell disease (1993) Am J Hematol, 43 (2), pp. 103-106Castro, O., Sandler, S.G., Houstoun-Yu, P., Rana, S., Predicting the effect of transfusing only phenotype-matched RBCs to patients with sickle cell disease: Theoretical and practical implications (2002) Transfusion, 42 (6), pp. 684-690Chou, S.T., Westhoff, C.M., The role of molecular immunohematology in sickle cell disease (2011) Transfus Apher Sci, 44 (1), pp. 73-79Vichinsky, E.P., Luban, N.L., Wright, E., Olivieri, N., Driscoll, C., Pegelow, C.H., Adams, R.J., Stroke Prevention Trail in Sickle Cell Anemia. Prospective RBC phenotype matching in a stroke-prevention trial in sickle cell anemia: A multicenter transfusion trial (2001) Transfusion, 41 (9), pp. 1086-1092. , Comment in: Transfusion. 2002;42(5):658-9author reply 659-660Beiboer, S.H., Wieringa-Jelsma, T., Maaskant-Von wijk, P.A., van der Schoot, C.E., van Zwieten, R., Roos, D., Rapid genotyping of blood group antigens by multiplex polymerase chain reaction and DNA microarray hybridization (2005) Transfusion, 45 (5), pp. 667-679. , Comment in: Transfusion. 2005;45(5):652-653Bugert, P., McBride, S., Smith, G., Dugrillon, A., Klüter, H., Ouwehand, W.H., Microarray-based genotyping for blood groups: Comparison of gene array and 5'-nuclease assay techniques with human platelet antigen as a model (2005) Transfusion, 45 (5), pp. 654-659. , Comment in: Transfusion. 2005;45(5):652-3Flickinger, C., In search of red blood cells for alloimmunized patients with sickle cell disease (2006) Immunohematology, 22 (3), pp. 136-142Castilho, L., Rios, M., Pellegrino, J., Saad, S.T., Costa, F.F., Blood group genotyping facilitates transfusion of b thalassemia patients (2002) J Clin Lab Anal, 16 (5), pp. 216-220Ribeiro, K.R., Guarnieri, M.H., da Costa, D.C., Costa, F.F., Pellegrino Jr., J., Castilho, L., DNA array analysis for red blood cell antigens facilitates the transfusion support with antigen-matched blood in patients with sickle cell disease (2009) Vo X Sang, 97 (2), pp. 147-152Klapper, E., Zgang, Y., Figueroa, P., Ness, P., Stubbs, J., Abumuhor, I., Toward extended phenotype matching: A new operational paradigm for the transfusion service (2010) Transfusion, 50 (3), pp. 536-546Hashmi, G., Shariff, T., Seul, M., Vissavajjhala, P., Hue-Roye, K., Charles-Pierre, D., A fexible array format for large-scale, rapid blood group DNA typing (2005) Transfusion, 45 (5), pp. 680-688. , Comment in: Transfusion. 2005;45(5):652-653Hashmi, G., Shariff, T., Zhang, Y., Cristobal, J., Chau, C., Lseul, M., Determination of 24 minor red blood cell antigens for more than 2000 blood donors by high-throughput DNA analysis (2007) Transfusion, 47 (4), pp. 736-747. , Erratum in: Transfusion. 2007;47(5):952Halter Hipsky, C., Costa, D.C., Omoto, R., Zanete, A., Castilho, L., Reid, M.E., Prevalence of RHD*DOL and RHCE*ce(818T) in two populations (2011) Immunohematology, 27 (2), pp. 66-67Schonewille, 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? (2006) Transfusion, 46 (4), pp. 630-63

Genetic Polymorphisms Of Rh, Kell, Duffy And Kidd Systems In A Population From The State Of Paraná, Southern Brazil

Background: Red blood group genes are highly polymorphic and the distribution of alleles varies among different populations and ethnic groups. Aim: To evaluate allele polymorphisms of the Rh, Kell, Duffy and Kidd blood group systems in a population of the State of Paraná Methods: Rh, Kell, Duffy and Kidd blood group polymorphisms were evaluated in 400 unrelated blood or bone marrow donors from the northwestern region of Paraná State between September 2008 and October 2009. The following techniques were used: multiplex-polymerase chain reaction genotyping for the identification of the RHD gene and RHCE C/c genotype; allele-specific polymerase chain reaction for the RHDΨ and restriction fragment length polymorphism polymerase chain reaction for the RHCEE/e, KEL, FY-GATA and JK alleles. Results: These techniques enabled the evaluation of the frequencies of Rh, Kell, Duffy and Kidd polymorphisms in the population studied, which were compared to frequencies in two populations from the eastern region of São Paulo State. Conclusion: The RHCE c/c, FY A/FY B, GATA-33 T/T, JK B/JK B genotypes were more prevalent in the population from Paraná, while RHCE C/c, FY B/FY B, GATA-33 C/C, JK A/JK B genotypes were more common in the populations from São Paulo.3312125Daniels, G., Castilho, L., Flegel, W.A., Fletcher, A., Garratty, G., Levene, C., International Society of Blood Transfusion Committee on Terminology for red blood cell surface antigens: Macao report (2009) Vox Sang, 96 (2), pp. 153-156Hellberg, A., Chester, M.A., Olsson, M.L., Two previously proposed P1/ P2-differentiating and nine novel polymorphisms at the A4GALT (Pk) locus do not correlate with the presence of the P1 blood group antigen (2005) BMC Genet, 6, p. 49Tilley, L., Green, C., Daniels, G., Sequence variation in the 5' untranslated region of the human A4GALT gene is associated with, but does not define, the P1 blood group polymorphism (2006) Vox Sang, 90 (3), pp. 198-203Yip, S.P., Sequence variation at the human ABO locus (2002) Ann Hum Genet, 66 (Pt1), pp. 1-27Daniels, G., The molecular genetics of blood group polymorphism (2009) Hum Genet, 126 (6), pp. 729-742Lee, S., Molecular basis of Kell blood group phenotypes (1997) Vox Sang, 73 (1), pp. 1-11. , Erratum in: Vox Sang 1998;74(1):58Lee, S., Zambas, E.D., Marsh, W.L., Redman, C.M., The human Kell blood group gene maps to chromosome 7q33 and its expression is restricted to erythroid cells (1993) Blood, 81 (10), pp. 2804-2809Pruenster, M., Rot, A., Throwing light on DARC (2006) Biochem Soc Trans, 34 (Pt6), pp. 1005-1008Miller, L.H., Mason, S.J., Dvorak, J.A., McGinniss, M.H., Rothman, I.K., Erythrocyte receptors for (Plasmodium knowlesi) malaria: Duffy blood group determinants (1975) Science, 189 (4202), pp. 561-563You, G., Smith, C.P., Kanai, Y., Lee, W.-S., Stelzner, M., Hediger, M.A., Cloning and characterization of the vasopressin-regulated urea transporter (1993) Nature, 365 (6449), pp. 844-847Olivès, B., Merriman, M., Bailly, P., Bain, S., Barnett, A., Todd, J., The molecular basis of the Kidd blood group polymorphism and its lack of association with type 1 diabetes susceptibility (1997) Hum Mol Genet, 6 (7), pp. 1017-1020Lin, Y., Pavenski, K., Saidenberg, E., Branch, D.R., Blood group antigens and normal red blood cell physiology: A Canadian blood services research and development symposium (2009) Transfus Med Rev, 23 (4), pp. 292-309Singleton, B.K., Green, C.A., Avent, N.D., Martin, P.G., Smart, E., Daka, A., The presence of an RHD pseudogene containing a 37 base pair duplication phenotype and a nonsense mutation in africans with the Rh D-negative blood group (2000) Blood, 95 (1), pp. 12-18Rios, M., Cash, K., Strupp, A., Uehlinger, J., Reid, M.E., DNA from urine sediment or buccal cells can be used for blood group molecular genotyping (1999) Immunohematology, 15 (2), pp. 61-65Reid, M.E., Rios, M., Yazdanbakhsh, K., Applications of molecular biology techniques to transfusion medicine (2000) Semin Hematol, 37 (2), pp. 166-176Ribeiro, K.R., Guarnieri, M.H., da Costa, D.C., Costa, F.F., Pellegrino Jr., J., Castilho, L., DNA array analysis for red blood cell antigens facilitates the transfusion support with antigen-matched blood in patients with sickle cell disease (2009) Vox Sang, 97 (2), pp. 147-152Pellegrino Jr., J., Castilho, L., Rios, M., de Souza, C.A., Blood group genotyping in a population of highly diverse ancestry (2001) J Clin Lab Anal, 15 (1), pp. 8-13Svejgaard, A., Jersild, C., Nielsen, S., Bodmer, W.F., HLA and disease. Statistical genetic consideration (1974) Tissue Antigens, 4 (2), pp. 95-105Parra, F.C., Amado, R.C., Lambertucci, J.R., Rocha, J., Antunes, C.M., Pena, S.D.J., Color and genomic ancestry in Brazilians (2003) Proc Natl Acad Sci USA, 100 (1), pp. 177-182Carvalho-Silva, D.R., Santos, F.R., Rocha, J., Pena, S.D., The phylogeography of Brazilian Y-chromosome lineages (2001) Am J Hum Genet, 68 (1), pp. 281-286Probst, C.M., Bompeixe, E.P., Pereira, N.F., de O Dalalio, M.M., Visentainer, J.E., Tsuneto, L.T., HLA polymorphism and evaluation of European, African, and Amerindian contribution to the white and mulatto populations from Paraná, Brazil (2000) Hum Biol, 72 (4), pp. 597-617Cavasini, C.E., de Mattos, L.C., Couto, A.A., Couto, V.S., Gollino, Y., Moretti, L.J., Duffy blood group gene polymorphisms among malaria vivax patients in four areas of the Brazilian Amazon region (2007) Malar J, 6, pp. 167-174Visentainer, J.E., Sell, A.M., da Silva, G.C., Cavichioli, A.D., Franceschi, D.S., Lieber, S.R., TNF, IFNG, IL6, IL10 and TGFB1 gene polymorphisms in South and Southeast Brazil (2008) Int J Immunogenet, 35 (4-5), pp. 287-29