Thalassemia Major Phenotypes Secondary To The Association Of β 5′utr +20(c→t) Allele With β 39(c→t)

[No abstract available]893273275Ho, P.J., Rochette, J., Fisher, C.A., Wonke, B., Jarvis, M.K., Yardumian, A., Thein, S.L., Moderate reduction of beta-globin gene transcript by a novel mutation in the 5′ untranslated region: a study of its interaction with other genotypes in two families (1996) Blood, 87, pp. 1170-1178Lewis, B.A., Kim, T.K., Orkin, S.H., A downstream element in the human beta-globin promoter: evidence of extended sequence-specific transcription factor IID contacts (2000) Proc Natl Acad Sci U S A, 97, pp. 7172-7177Sgourou, A., Routledge, S., Antoniou, M., Papachatzopoulou, A., Psiouri, L., Athanassiadou, A., Thalassaemia mutations within the 5′UTR of the human beta-globin gene disrupt transcription (2004) Br J Haematol, 124, pp. 828-835Rossetti, L.C., Targovnik, H.M., Varela, V., The molecular basis of beta-thalassemia in Argentina. Influence of the pattern of immigration from the Mediterranean Basin (2004) Haematologica, 89, pp. 746-747Talmaci, R., Traeger-Synodinos, J., Kanavakis, E., Coriu, D., Colita, D., Gavrila, L., Scanning of beta-globin gene for identification of beta-thalassemia mutation in Romanian population (2004) J Cell Mol Med, 8, pp. 232-240Yavarian, M., Harteveld, C.L., Batelaan, D., Bernini, L.F., Giordano, P.C., Molecular spectrum of beta-thalassemia in the Iranian Province of Hormozgan (2001) Hemoglobin, 25, pp. 35-43Orkin, S.H., Kazazian Jr., H.H., Antonarakis, S.E., Goff, S.C., Boehm, C.D., Sexton, J.P., Waber, P.G., Giardina, P.J., Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster (1982) Nature, 296, pp. 627-631Halvorsen, M., Martin, J.S., Broadaway, S., Laederach, A., Disease-associated mutations that alter the RNA structural ensemble (2010) PLoS Genet, 6, pp. e1001074Leach, K.M., Vieira, K.F., Kang, S.L., Aslanian, A., Teichmann, M., Roeder, R.G., Bungert, J., Characterization of the human β-globin downstream promoter region (2003) Nucleic Acids Res, 31, pp. 1292-1301Reichert, V.C., de Castro, S.M., Wagner, S.C., de Albuquerque, D.M., Hutz, M.H., Leistner-Segal, S., Identification of beta thalassemia mutations in South Brazilians (2008) Ann Hematol, 87, pp. 381-384Pirastu, M., Galanello, R., Doherty, M.A., Tuveri, T., Cao, A., Kan, Y.W., The same β-globin gene mutation is present on nine different β-thalassemia chromosomes in a Sardinian population (1987) Proc Nat Acad Sci USA, 84, pp. 2882-2885Smith, R.A., Ho, P.J., Clegg, J.B., Kidd, J.R., Thein, S.L., Recombination breakpoints in the human β-globin gene cluster (1998) Blood, 92, pp. 4415-442