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Disease relevance of alpha-Thalassemia


Psychiatry related information on alpha-Thalassemia


High impact information on alpha-Thalassemia

  • We recently described an individual with an inherited form of anemia (alpha-thalassemia) who has a deletion that results in a truncated, widely expressed gene (LUC7L) becoming juxtaposed to a structurally normal alpha-globin gene (HBA2) [8].
  • B12 deficiency in alpha-thalassemia [9].
  • In both deletion and nondeletion forms of alpha thalassemia, only the alpha 1 RNA and establish the normal pattern of relative alpha-gene expression during development independent of protein variants [10].
  • The results show that there are two common alpha-thalassemia haplotypes, a deletion (-alpha/) determinant and a nondeletion (alpha alpha T/) determinant, which interact to produce a series of overlapping phenotypes [11].
  • In a Chinese patient with nondeletion hemoglobin-H disease (- -/alpha alpha T) (both alpha-globin genes are present but not fully functional) a normal ratio was maintained between the levels of alpha 1- and alpha 2-globin mRNA, implying that mRNA production from both alpha-globin genes is suppressed in a balanced manner [12].

Chemical compound and disease context of alpha-Thalassemia


Biological context of alpha-Thalassemia


Anatomical context of alpha-Thalassemia


Gene context of alpha-Thalassemia

  • Common clinical features associated with ATRX mutations include severe mental retardation, characteristic facial anomalies and variable degrees of urogenital defects and alpha-thalassemia [25].
  • The alpha-globin chains are encoded by two duplicated genes (HBA2 and HBA1, 5'-3') showing overall sequence homology >96% and average CG content >60%. alpha-Thalassemia, the most prevalent worldwide autosomal recessive disorder, is a hereditary anemia caused by sequence variations of these genes in about 25% of carriers [26].
  • This RBC CR1 deficiency is associated with polymorphisms in the CR1 gene and, unexpectedly, with alpha-thalassemia, a common genetic disorder in Melanesian populations [27].
  • Mouse zeta- and alpha-globin genes: embryonic survival, alpha-thalassemia, and genetic background effects [28].
  • The distribution of alpha-thalassemia 2 seems to be in accordance with other conditions such as ovalocytosis and G6PD deficiency which are also prevalent in this population, suggesting that they may interact in protection against malaria [29].

Analytical, diagnostic and therapeutic context of alpha-Thalassemia


  1. Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements. Yen, P.H., Li, X.M., Tsai, S.P., Johnson, C., Mohandas, T., Shapiro, L.J. Cell (1990) [Pubmed]
  2. Detection of a major gene for heterocellular hereditary persistence of fetal hemoglobin after accounting for genetic modifiers. Thein, S.L., Sampietro, M., Rohde, K., Rochette, J., Weatherall, D.J., Lathrop, G.M., Demenais, F. Am. J. Hum. Genet. (1994) [Pubmed]
  3. Gene deletions in alpha thalassemia prove that the 5' zeta locus is functional. Pressley, L., Higgs, D.R., Clegg, J.B., Weatherall, D.J. Proc. Natl. Acad. Sci. U.S.A. (1980) [Pubmed]
  4. Asymmetrically primed selective amplification/temperature shift fluorescence polymerase chain reaction to detect the hemoglobin Constant Spring mutation. Kropp, G.L., Fucharoen, S., Embury, S.H. Blood (1991) [Pubmed]
  5. Effects of alpha-thalassemia on pharmacokinetics of the antimalarial agent artesunate. Ittarat, W., Looareesuwan, S., Pootrakul, P., Sumpunsirikul, P., Vattanavibool, P., Meshnick, S.R. Antimicrob. Agents Chemother. (1998) [Pubmed]
  6. Daxx: death or survival protein? Salomoni, P., Khelifi, A.F. Trends Cell Biol. (2006) [Pubmed]
  7. Angelman syndrome: mimicking conditions and phenotypes. Williams, C.A., Lossie, A., Driscoll, D. Am. J. Med. Genet. (2001) [Pubmed]
  8. Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease. Tufarelli, C., Stanley, J.A., Garrick, D., Sharpe, J.A., Ayyub, H., Wood, W.G., Higgs, D.R. Nat. Genet. (2003) [Pubmed]
  9. B12 deficiency in alpha-thalassemia. Bennett, M., Koren, A., Ludacer, E. N. Engl. J. Med. (1984) [Pubmed]
  10. The duplicated human alpha-globin genes: their relative expression as measured by RNA analysis. Orkin, S.H., Goff, S.C. Cell (1981) [Pubmed]
  11. A new genetic basis for hemoglobin-H disease. Pressley, L., Higgs, D.R., Clegg, J.B., Perrine, R.P., Pembrey, M.E., Weatherall, D.J. N. Engl. J. Med. (1980) [Pubmed]
  12. Differentiation of the mRNA transcripts originating from the alpha 1- and alpha 2-globin loci in normals and alpha-thalassemics. Liebhaber, S.A., Kan, Y.W. J. Clin. Invest. (1981) [Pubmed]
  13. Molecular basis for nondeletion alpha-thalassemia in American blacks. Alpha 2(116GAG----UAG). Liebhaber, S.A., Coleman, M.B., Adams, J.G., Cash, F.E., Steinberg, M.H. J. Clin. Invest. (1987) [Pubmed]
  14. Two new sickle cell syndromes: HbS, Hb Camden, and alpha-thalassemia; and HbS in combination with Hb Tacoma. Honig, G.R., Mason, R.G., Shamsuddin, M., Vida, L.N., Rao, K.R., Patel, A.R. Blood (1980) [Pubmed]
  15. Globin-chain specificity of oxidation-induced changes in red blood cell membrane properties. Schrier, S.L., Mohandas, N. Blood (1992) [Pubmed]
  16. Poor tolerance of zidovudine in an HIV-asymptomatic patient with alpha-thalassemia. Vittecoq, D., Delabesse, E., Bary, M., Girot, R., Maier Redelsperger, N., Bach, J.F. Am. J. Med. (1991) [Pubmed]
  17. The micromeasurement of free erythrocyte protoporphyrin as a means of differentiating alpha thalassemia trait from iron deficiency anemia. Koenig, H.M., Lightsey, A.L., Schanberger, J.E. J. Pediatr. (1975) [Pubmed]
  18. Trimodality in the proportion of hemoglobin G Philadelphia in heterozygotes: evidence for heterogeneity in the number of human alpha chain loci. Baine, R.M., Rucknagel, D.L., Dublin, P.A., Adams, J.G. Proc. Natl. Acad. Sci. U.S.A. (1976) [Pubmed]
  19. Polynesian origins and affinities: globin gene variants in eastern Polynesia. Hill, A.V., Gentile, B., Bonnardot, J.M., Roux, J., Weatherall, D.J., Clegg, J.B. Am. J. Hum. Genet. (1987) [Pubmed]
  20. X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis. Gibbons, R.J., Suthers, G.K., Wilkie, A.O., Buckle, V.J., Higgs, D.R. Am. J. Hum. Genet. (1992) [Pubmed]
  21. Interaction of rare illegitimate recombination event and a poly A addition site mutation resulting in a severe form of alpha thalassemia. Fortina, P., Parrella, T., Sartore, M., Gottardi, E., Gabutti, V., Delgrosso, K., Mansfield, E., Rappaport, E., Schwartz, E., Camaschella, C. Blood (1994) [Pubmed]
  22. Reduced deformability of thalassemic erythrocytes and erythrocytes with abnormal hemoglobins and relation with susceptibility to Plasmodium falciparum invasion. Bunyaratvej, A., Butthep, P., Sae-Ung, N., Fucharoen, S., Yuthavong, Y. Blood (1992) [Pubmed]
  23. Inactivation of mouse alpha-globin gene by homologous recombination: mouse model of hemoglobin H disease. Chang, J., Lu, R.H., Xu, S.M., Meneses, J., Chan, K., Pedersen, R., Kan, Y.W. Blood (1996) [Pubmed]
  24. Prevalence of hemoglobin E, alpha-thalassemia and glucose-6-phosphate dehydrogenase deficiency in 1,000 cord bloods studied in Bangkok. Tanphaichitr, V.S., Mahasandana, C., Suvatte, V., Yodthong, S., Pung-amritt, P., Seeloem, J. Southeast Asian J. Trop. Med. Public Health (1995) [Pubmed]
  25. Neurodevelopmental defects resulting from ATRX overexpression in transgenic mice. Bérubé, N.G., Jagla, M., Smeenk, C., De Repentigny, Y., Kothary, R., Picketts, D.J. Hum. Mol. Genet. (2002) [Pubmed]
  26. Sequence variations of the alpha-globin genes: scanning of high CG content genes with DHPLC and DG-DGGE. Lacerra, G., Fiorito, M., Musollino, G., Di Noce, F., Esposito, M., Nigro, V., Gaudiano, C., Carestia, C. Hum. Mutat. (2004) [Pubmed]
  27. A human complement receptor 1 polymorphism that reduces Plasmodium falciparum rosetting confers protection against severe malaria. Cockburn, I.A., Mackinnon, M.J., O'Donnell, A., Allen, S.J., Moulds, J.M., Baisor, M., Bockarie, M., Reeder, J.C., Rowe, J.A. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  28. Mouse zeta- and alpha-globin genes: embryonic survival, alpha-thalassemia, and genetic background effects. Leder, A., Daugherty, C., Whitney, B., Leder, P. Blood (1997) [Pubmed]
  29. Alpha-thalassemia in Papua New Guinea. Yenchitsomanus, P., Summers, K.M., Board, P.G., Bhatia, K.K., Jones, G.L., Johnston, K., Nurse, G.T. Hum. Genet. (1986) [Pubmed]
  30. The 3' untranslated regions of the duplicated human alpha-globin genes are unexpectedly divergent. Michelson, A.M., Orkin, S.H. Cell (1980) [Pubmed]
  31. Homozygous alpha-thalassemia treated with intrauterine transfusions and postnatal hematopoietic stem cell transplantation. Thornley, I., Lehmann, L., Ferguson, W.S., Davis, I., Forman, E.N., Guinan, E.C. Bone Marrow Transplant. (2003) [Pubmed]
  32. Gene mapping of Malaysian alpha thalassemias with alpha and zeta globin gene probes. Lie-Injo, L.E., Herrera, A.R., Lebo, R.V., Hassan, K., Lopez, C.G. Am. J. Hematol. (1985) [Pubmed]
  33. Screening for alpha-thalassemia. Correlation of hemoglobin H inclusion bodies with DNA-determined genotype. Skogerboe, K.J., West, S.F., Smith, C., Terashita, S.T., LeCrone, C.N., Detter, J.C., Tait, J.F. Arch. Pathol. Lab. Med. (1992) [Pubmed]
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