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Disease relevance of Thalassemia


High impact information on Thalassemia


Chemical compound and disease context of Thalassemia


Biological context of Thalassemia


Anatomical context of Thalassemia


Gene context of Thalassemia


Analytical, diagnostic and therapeutic context of Thalassemia


  1. Long-term safety and effectiveness of iron-chelation therapy with deferiprone for thalassemia major. Olivieri, N.F., Brittenham, G.M., McLaren, C.E., Templeton, D.M., Cameron, R.G., McClelland, R.A., Burt, A.D., Fleming, K.A. N. Engl. J. Med. (1998) [Pubmed]
  2. Prevention of cardiac disease by subcutaneous deferoxamine in patients with thalassemia major. Wolfe, L., Olivieri, N., Sallan, D., Colan, S., Rose, V., Propper, R., Freedman, M.H., Nathan, D.G. N. Engl. J. Med. (1985) [Pubmed]
  3. Visual and auditory neurotoxicity in patients receiving subcutaneous deferoxamine infusions. Olivieri, N.F., Buncic, J.R., Chew, E., Gallant, T., Harrison, R.V., Keenan, N., Logan, W., Mitchell, D., Ricci, G., Skarf, B. N. Engl. J. Med. (1986) [Pubmed]
  4. 5-Azacytidine acts directly on both erythroid precursors and progenitors to increase production of fetal hemoglobin. Humphries, R.K., Dover, G., Young, N.S., Moore, J.G., Charache, S., Ley, T., Nienhuis, A.W. J. Clin. Invest. (1985) [Pubmed]
  5. 5-Azacytidine increases gamma-globin synthesis and reduces the proportion of dense cells in patients with sickle cell anemia. Ley, T.J., DeSimone, J., Noguchi, C.T., Turner, P.H., Schechter, A.N., Heller, P., Nienhuis, A.W. Blood (1983) [Pubmed]
  6. Deferoxamine in thalassemia major. Lucarelli, G., Clift, R., Angelucci, E. N. Engl. J. Med. (1995) [Pubmed]
  7. Extended therapy with intravenous arginine butyrate in patients with beta-hemoglobinopathies. Sher, G.D., Ginder, G.D., Little, J., Yang, S., Dover, G.J., Olivieri, N.F. N. Engl. J. Med. (1995) [Pubmed]
  8. Insulin resistance and hyperinsulinemia in patients with thalassemia major treated by hypertransfusion. Merkel, P.A., Simonson, D.C., Amiel, S.A., Plewe, G., Sherwin, R.S., Pearson, H.A., Tamborlane, W.V. N. Engl. J. Med. (1988) [Pubmed]
  9. A single-base change at a splice site in a beta 0-thalassemic gene causes abnormal RNA splicing. Treisman, R., Proudfoot, N.J., Shander, M., Maniatis, T. Cell (1982) [Pubmed]
  10. Oxidative modification of low-density lipoprotein and atherogenetic risk in beta-thalassemia. Livrea, M.A., Tesoriere, L., Maggio, A., D'Arpa, D., Pintaudi, A.M., Pedone, E. Blood (1998) [Pubmed]
  11. Efficacy and possible adverse effects of the oral iron chelator 1,2-dimethyl-3-hydroxypyrid-4-one (L1) in thalassemia major. al-Refaie, F.N., Wonke, B., Hoffbrand, A.V., Wickens, D.G., Nortey, P., Kontoghiorghes, G.J. Blood (1992) [Pubmed]
  12. The hydration state of human red blood cells and their susceptibility to invasion by Plasmodium falciparum. Tiffert, T., Lew, V.L., Ginsburg, H., Krugliak, M., Croisille, L., Mohandas, N. Blood (2005) [Pubmed]
  13. Effects of combined chelation treatment with pyridoxal isonicotinoyl hydrazone analogs and deferoxamine in hypertransfused rats and in iron-loaded rat heart cells. Link, G., Ponka, P., Konijn, A.M., Breuer, W., Cabantchik, Z.I., Hershko, C. Blood (2003) [Pubmed]
  14. Polymorphism of DNA sequence in the beta-globin gene region. Application to prenatal diagnosis of beta 0 thalassemia in Sardinia. Kan, Y.W., Lee, K.Y., Furbetta, M., Angius, A., Cao, A. N. Engl. J. Med. (1980) [Pubmed]
  15. Effect of age at the start of iron chelation therapy on gonadal function in beta-thalassemia major. Bronspiegel-Weintrob, N., Olivieri, N.F., Tyler, B., Andrews, D.F., Freedman, M.H., Holland, F.J. N. Engl. J. Med. (1990) [Pubmed]
  16. The proximal element of the beta globin locus control region is not functionally required in vivo. Kulozik, A.E., Bail, S., Bellan-Koch, A., Bartram, C.R., Kohne, E., Kleihauer, E. J. Clin. Invest. (1991) [Pubmed]
  17. 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. Ho, P.J., Rochette, J., Fisher, C.A., Wonke, B., Jarvis, M.K., Yardumian, A., Thein, S.L. Blood (1996) [Pubmed]
  18. Evaluation of alpha hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with beta thalassemia. Viprakasit, V., Tanphaichitr, V.S., Chinchang, W., Sangkla, P., Weiss, M.J., Higgs, D.R. Blood (2004) [Pubmed]
  19. Beta + thalassemia: aberrant splicing results from a single point mutation in an intron. Busslinger, M., Moschonas, N., Flavell, R.A. Cell (1981) [Pubmed]
  20. Embryonic erythroid differentiation in the human leukemic cell line K562. Rutherford, T., Clegg, J.B., Higgs, D.R., Jones, R.W., Thompson, J., Weatherall, D.J. Proc. Natl. Acad. Sci. U.S.A. (1981) [Pubmed]
  21. Diagnosis of thalassemia using cDNA amplification of circulating erythroid cell mRNA with the polymerase chain reaction. Huang, S.Z., Rodgers, G.P., Zeng, F.Y., Zeng, Y.T., Schechter, A.N. Blood (1992) [Pubmed]
  22. Hematopoietic transplantation for bone marrow failure syndromes and thalassemia. Sevilla, J., Fernández-Plaza, S., Diaz, M.A., Madero, L. Bone Marrow Transplant. (2005) [Pubmed]
  23. Ultrastructural characterization of the erythroid cells in a novel case of congenital anemia. Antonelou, M.H., Papassideri, I.S., Karababa, F.J., Loutradi, A., Margaritis, L.H. Blood Cells Mol. Dis. (2003) [Pubmed]
  24. Defective iron supply for erythropoiesis and adequate endogenous erythropoietin production in the anemia associated with systemic-onset juvenile chronic arthritis. Cazzola, M., Ponchio, L., de Benedetti, F., Ravelli, A., Rosti, V., Beguin, Y., Invernizzi, R., Barosi, G., Martini, A. Blood (1996) [Pubmed]
  25. X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction. Yu, C., Niakan, K.K., Matsushita, M., Stamatoyannopoulos, G., Orkin, S.H., Raskind, W.H. Blood (2002) [Pubmed]
  26. Acquired somatic ATRX mutations in myelodysplastic syndrome associated with alpha thalassemia (ATMDS) convey a more severe hematologic phenotype than germline ATRX mutations. Steensma, D.P., Higgs, D.R., Fisher, C.A., Gibbons, R.J. Blood (2004) [Pubmed]
  27. Regulation of hepatic transferrin, transferrin receptor and ferritin genes in human siderosis. Pietrangelo, A., Rocchi, E., Ferrari, A., Ventura, E., Cairo, G. Hepatology (1991) [Pubmed]
  28. Impairment of Plasmodium falciparum growth in thalassemic red blood cells: further evidence by using biotin labeling and flow cytometry. Pattanapanyasat, K., Yongvanitchit, K., Tongtawe, P., Tachavanich, K., Wanachiwanawin, W., Fucharoen, S., Walsh, D.S. Blood (1999) [Pubmed]
  29. Regulated expression of amplified human beta globin genes. Rund, D., Dobkin, C., Bank, A. Blood (1987) [Pubmed]
  30. Deferoxamine improves left ventricular function in beta-thalassemia. Grisaru, D., Goldfarb, A.W., Gotsman, M.S., Rachmilewitz, E.A., Hasin, Y. Arch. Intern. Med. (1986) [Pubmed]
  31. A Chinese G gamma + (A gamma delta beta)zero thalassemia deletion: comparison to other deletions in the human beta-globin gene cluster and sequence analysis of the breakpoints. Mager, D.L., Henthorn, P.S., Smithies, O. Nucleic Acids Res. (1985) [Pubmed]
  32. Simplified hemoglobin chain detection by capillary electrophoresis. Shihabi, Z.K., Hinsdale, M.E. Electrophoresis (2005) [Pubmed]
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