Determination of Rh, Kell, Duffy and Kidd phenotypes in addition to ABO is used to prevent the alloimmunization to red blood cells (RBCs) antigens and as part of the antibody identification process in patients with β Thalassemia. However, phenotyping in these patients can be time consuming and difficult to interpret. In these situations, it would be valuable to have an alternative to hemagglutination tests to determine the patient's antigen profile. We used PCR-RFLP to genotype such patients. DNA was prepared from 50 patients with β Thalassemia who had been phenotyped by routine hemagglutination, and tested for Kell, Kidd, Duffy/ GATA mutation by PCR-RFLP. RHD/non-D was analysed by PCR product size associated to RHD gene sequence in intron 4 and exon 10/3'UTR. The genotyping assays were performed without knowledge of phenotype results. For RHD/non-D, 47 were RhD+ and RHD+/RHCE+, and 3 were RhD- and RHD-/RHCE+. For Kell, 48 kk were K2K2 and 2 Kk were K1K2. For Duffy, of 44 samples that had normal GATA box, 8 Fy(a+b-) were FYA/FYA, 15 Fy(a+b+) were FYB/FYB, and 19 Fy(a+b+) were FYA/FYB; of the other 4 samples 3 were FYA/FYB and heterozygous GATA mutation, and 1 Fy(a-b-) was FYB/FYB, homozygous GATA mutation. Two samples phenotyped as Fy(a+b-) that had normal GATA, presented the 265T/298 A mutations and two samples phenotyped as Fy(a-b+) were genotyped was FYA/FYB. For Kidd, 15 Jk(a+b) were JKA/JKA, 12 Jk(a-b+) were JKB/JKB, and 20 Jk(a+b+) were JKA/JKB. Three samples phenotyped as JK(a+b+) were genotyped as JKB/JKB. Genotype is more accurate than phenotype for determination of blood groups in polytransfused patients with β Thalassemia. Genotyping in these patients can be helpful to select antigen-negative RBCs for transfusion.2226976Blumberg, N., Peck, K., Ross, K., Avila, E., Immune response to chronic red blood cell transfusion (1983) Vox Sang, 44, pp. 212-217Economidou, J., Constantoulakis, M., Augoustaki, O., Adinolfi, M., Frequency of antibodies to various antigenic determinants in polytransfused patients with homozygous thalassemia in Greece (1971) Vox Sang, 20, p. 252Sirchia, G., Zanella, A., Parravicini, A., Morelati, F., Rebulla, P., Masera, G., Red cell alloantibodies in patients with thalassemia major. Results of na Italian cooperative study (1985) Transfusion, 25, p. 110Spanos, T., Karageorga, M., Ladis, V., Peristeri, J., Hatziliami, A., Kattamis, C., Red cell alloantibodies in patients with thalassemia (1990) Vox Sang, 58, p. 50Greenwalt, T.J., Zelenski, K.R., Transfusion support for hemoglobinopathies (1984) Clin. Haematol., 13, pp. 151-165Charache, S., Problems in transfusion therapy (1990) N. Engl. J. Med., 322, pp. 1666-1668. , editorialPerkins, H.A., The safety of the blood supply: Making decisions in transfusion medicine (1992) Blood Safety: Current Challenges, pp. 125-150. , Nance SJ, ed. Bethesda: American Association of Blood BanksColes, S.M., Klein, H.G., Holland, P.V., Alloimmunization in two multitransfused patient populations (1981) Transfusion, 21, pp. 462-466Michail-Merianou, V., Pamphili-Panouspoulou, L., Piperi-Lowes, L., Pelegrinis, E., Karaklis, A., Alloimmunization to red cell antigens in thalassemia: Comparative study of usual versus better-match transfusion programmes (1987) Vox Sang, 52, p. 95Reid, M.E., Yazdanbakhsh, K., Molecular insights into blood groups and implications for blood transfusions (1998) Current Opinion in Hematology, 5, pp. 93-102Avent, N.D., Human erythrocyte antigen expression: Its molecular bases (1997) Br. J. Biom. Sci., 54, pp. 16-37Lee, T.H., Donegan, E., Slichter, S., Bush, M.P., Transient increase in circulating donor leucocytes after allogeneic transfusions in Immunocompetent recipients compatible with donor cell proliferation (1995) Blood, 85, pp. 1207-1214Adams, F.T., Davenport, R.D., Rcardon, D.A., Roth, M.S., Detection of circulating donor white blood cells in patients receiving multiple trasnfusions (1992) Blood, 80, pp. 551-555Lee, T.-H., Paglieroni, T., Ohro, H., Holland, P.V., Bush, M.P., Longterm multi-lineage chimerism of donor leucocytes in transfused trauma patients (1996) Blood, 88, p. 265. , abstrRios, 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) Immunehematology, 15, pp. 61-65Reid, M.E., Rios, M., Powell, D., Charles-Pierre, D., Malavade, V., DNA from blood samples can be used to genotype patients who have recently received a transfusion (2000) Transfusion, 40, pp. 1-6Davies, L., Dibner, M.D., Battey, J.F., (1986) Basic Methods in Molecular Biology, , Elsevier Science Publishing Co. Inc., New YorkLee, S., Wu, X., Reid, M.E., Zelinski, T., Redman, C., Molecular basis of the Kell (K1) phenotype (1995) Blood, 85, pp. 912-916Olivès, B., Merriman, M., Bailly, P., Bain, S., Barnett, A., Todd, J., Cartron, J.-P., Merriman, T., The molecular basis of the Kidd blood group polymorphism and its lack of association with type 1 diabetes susceptibility (1997) Hum. Mol. Genet., 6, pp. 1017-1020Chaudhuri, A., Polyakova, J., Zbrezezna, V., Williams, K., Gulati, S., Pogo, A.O., Cloning of glycoprotein D cDNA, which encodes the major subunit of the Duffy blood group system and the receptor for the Plasmodium vivax malaria parasite (1993) Proc. Natl. Acad. Sci. USA, 90, pp. 10793-10797Iwamoto, S., Omi, T., Kajii, E., Ikemoto, S., Genomic organization of the glycophorin D gene: Duffy blood group Fy a/Fy b alloantigen system is associated with a polymorphism at the 44-amino residue (1995) Blood, 85, pp. 622-626Tournamille, C., Collin, Y., Cartron, J.-P., Van Le Kim, C., Disruption of a GATA motif in the Duffy gene promotor abolishes erythroid gene expression in Duffy-negative individuals (1995) Nature Genet., 10, pp. 224-228Rios, M., Reid, M.E., Naime, D., Chaudhuri, A., Pogo, A.O., Bianco, C., Importance of GATA box analysis in genotyping for the Duffy blood group system (1997) Transfusion, 37 (S), pp. 101S. , abstrZimmerman, P.A., Woolley, I., Masinde, G.L., Miller, S.M., McNamara, D.T., Hazlett, F., Mgone Alpers, M.P., Kazura, J.W., Emergence of FY*A(null) in a Plasmodium vivax-endemic region of Papua New Guinea (1999) Proc Natl Acad Sci. USA, 96 (24), pp. 13973-13977. , Nov 23Olsson, M.L., Hansson, C., Akesson, I.E., Avent, N.D., Daniels, G.L., Detection of the common alleles at the Duffy blood group locus by allele-specific primer PCR (1997) Transfusion, 37 (S), pp. 102S. , abstrCartron, J.-P., Bailly, P., Van Le Kim, C., Insights into the structure and function of membrane polypeptides carrying blood group antigens (1998) Vox Sang, 74 (SUPPL. 2), pp. 29-64Huang, C.H., Molecular insights into the Rh protein family and associated antigens (1997) Curr Opin Hematol., 4, pp. 94-103Huang, C.H., Blumenfeld, O.O., MNSs blood groups and major glycophorins: Molecular basis for allelic variation (1995) Molecular Basis of Major Human Blood Group Antigens, pp. 153-183. , cartron J-P, Pouger P, eds. New York: Plenum PressAvent, N.D., Reid, M.E., The Rh Blood group system: A review (2000) Blood, 95, pp. 1-1
