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Gene Review

HBB  -  hemoglobin, beta

Homo sapiens

Synonyms: Beta-globin, CD113t-C, HBD, Hemoglobin beta chain, Hemoglobin subunit beta, ...
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Disease relevance of HBB

  • We show that both delta383 and delta99 specifically enhance expression of cat for plasmids containing a human adult globin (HBB) promoter, whereas expression of similar constructs using human fetal (A gamma-) globin (HBG1) or simian virus 40 (SV40) promoters is not enhanced [1].
  • Further studies demonstrated an inverse correlation between the binding affinity of the BP1 protein for the distal beta-globin silencer sequence and the severity of sickle cell anemia, suggesting a possible role for BP1 in determining the production of hemoglobin S [2].
  • An element upstream from the human delta-globin-encoding gene specifically enhances beta-globin reporter gene expression in murine erythroleukemia cells [1].
  • We have studied the structure and transcription of a cloned human beta-globin gene from a fetus diagnosed for beta 0 thalassemia [3].
  • Beta thalassemia in this area is predominantly the beta zero type with low levels of beta-globin mRNA [4].
  • Heterozygosis for beta-globin mutations is a novel risk factor for both hepatic iron accumulation and the progression to fibrosis in patients with CHC [5].

Psychiatry related information on HBB


High impact information on HBB


Chemical compound and disease context of HBB


Biological context of HBB


Anatomical context of HBB

  • BP1 exhibits regulated expression in the human erythroid cell line MB-02, where its expression decreases upon induction of the beta-globin gene [2].
  • Inhibition of beta protein 1 expression enhances beta-globin promoter activity and beta-globin mRNA levels in the human erythroleukemia (K562) cell line [24].
  • Haemoglobin beta showed significant decreased expression in ACLs and ATCs; however, in PTC, HBB expressed equal to the normal thyroid gland [25].
  • The spontaneous mutation frequencies vary widely, from about 0.04/10(6) cells (sickle cell mutations at the human HBB locus) to 30.8/10(6) cells (HLA-A mutations in T lymphocytes) and are dependent on the locus, the system employed and a number of other factors [26].
  • The beta + thalassemic and the normal beta-globin genes were cloned into an SV40-pBR328 vector and introduced into HeLa cells by calcium phosphate coprecipitation [27].

Associations of HBB with chemical compounds

  • We have previously shown that a DNA-binding factor specific to adult hematopoietic cells (polypryrimidine-binding factor, PYBF) binds to a pyrimidine-rich region 1 kb upstream from the human delta-globin-encoding gene (HBD) [1].
  • By comparison, hybrid haemoglobins containing either human epsilon-globin or human beta-globin exhibited nearly identical O2-binding properties, both in situ and in vitro, regardless of 2,3-BPG levels or ambient pH [28].
  • These data suggest that an endonuclease with preference for UG dinucleotides is involved in the degradation of nonsense-containing and, to a lesser extent, nonsense-free human beta-globin mRNAs in mouse erythroid cells [29].
  • Hemoglobin Long Island has two separate amino acid abnormalities of beta-globin structure: an extension of the NH2 terminus by a methionine residue and a histidine-to-proline substitution at the normal second position [30].
  • However, we were unable to find any other abnormality at either the AUG initiation codon or in the 56 bases upstream from the adenine-to-cytosine transversion (encompassing most of the 5' untranslated region of the mutant beta-globin mRNA) [30].

Physical interactions of HBB


Enzymatic interactions of HBB

  • In a patient homozygous for the G gamma A gamma type of HPFH at least 24 kb of DNA in the globin gene region has been deleted to remove most of the gamma-delta intergenic region and the delta and beta globin genes [36].

Regulatory relationships of HBB


Other interactions of HBB


Analytical, diagnostic and therapeutic context of HBB


  1. An element upstream from the human delta-globin-encoding gene specifically enhances beta-globin reporter gene expression in murine erythroleukemia cells. Acuto, S., Urzi, G., Schimmenti, S., Maggio, A., O'Neill, D., Bank, A. Gene (1996) [Pubmed]
  2. BP1, a homeodomain-containing isoform of DLX4, represses the beta-globin gene. Chase, M.B., Fu, S., Haga, S.B., Davenport, G., Stevenson, H., Do, K., Morgan, D., Mah, A.L., Berg, P.E. Mol. Cell. Biol. (2002) [Pubmed]
  3. 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]
  4. beta zero thalassemia in Sardinia is caused by a nonsense mutation. Trecartin, R.F., Liebhaber, S.A., Chang, J.C., Lee, K.Y., Kan, Y.W., Furbetta, M., Angius, A., Cao, A. J. Clin. Invest. (1981) [Pubmed]
  5. Heterozygous beta-globin gene mutations as a risk factor for iron accumulation and liver fibrosis in chronic hepatitis C. Sartori, M., Andorno, S., Pagliarulo, M., Rigamonti, C., Bozzola, C., Pergolini, P., Rolla, R., Suno, A., Boldorini, R., Bellomo, G., Albano, E. Gut (2007) [Pubmed]
  6. A 3' enhancer contributes to the stage-specific expression of the human beta-globin gene. Trudel, M., Costantini, F. Genes Dev. (1987) [Pubmed]
  7. Linkage of tyrosine hydroxylase to four other markers on the short arm of chromosome 11. Moss, P.A., Davies, K.E., Boni, C., Mallet, J., Reeders, S.T. Nucleic Acids Res. (1986) [Pubmed]
  8. Increased expression of alpha- and beta-globin mRNAs at the pituitary following exposure to estrogen during the critical period of neonatal sex differentiation in the rat. Leffers, H., Navarro, V.M., Nielsen, J.E., Mayen, A., Pinilla, L., Dalgaard, M., Malagon, M.M., Castaño, J.P., Skakkebaek, N.E., Aguilar, E., Tena-Sempere, M. J. Steroid Biochem. Mol. Biol. (2006) [Pubmed]
  9. Anemia as independent predictor of major events in elderly patients with chronic angina. Muzzarelli, S., Pfisterer, M. Am. Heart J. (2006) [Pubmed]
  10. Evaluation of the effects of various factors on the serum alpha hydroxybutyrate dehydrogenase activity in young females. Imaki, M., Kawabata, K., Yoshida, Y., Nakamura, T., Tanada, S. Applied human science : journal of physiological anthropology. (1995) [Pubmed]
  11. Nuclear organization of active and inactive chromatin domains uncovered by chromosome conformation capture-on-chip (4C). Simonis, M., Klous, P., Splinter, E., Moshkin, Y., Willemsen, R., de Wit, E., van Steensel, B., de Laat, W. Nat. Genet. (2006) [Pubmed]
  12. Genetic dissection and prognostic modeling of overt stroke in sickle cell anemia. Sebastiani, P., Ramoni, M.F., Nolan, V., Baldwin, C.T., Steinberg, M.H. Nat. Genet. (2005) [Pubmed]
  13. Heritable integration of kDNA minicircle sequences from Trypanosoma cruzi into the avian genome: insights into human Chagas disease. Nitz, N., Gomes, C., de Cássia Rosa, A., D'Souza-Ault, M.R., Moreno, F., Lauria-Pires, L., Nascimento, R.J., Teixeira, A.R. Cell (2004) [Pubmed]
  14. The beta-globin nuclear compartment in development and erythroid differentiation. Palstra, R.J., Tolhuis, B., Splinter, E., Nijmeijer, R., Grosveld, F., de Laat, W. Nat. Genet. (2003) [Pubmed]
  15. Abnormal display of PfEMP-1 on erythrocytes carrying haemoglobin C may protect against malaria. Fairhurst, R.M., Baruch, D.I., Brittain, N.J., Ostera, G.R., Wallach, J.S., Hoang, H.L., Hayton, K., Guindo, A., Makobongo, M.O., Schwartz, O.M., Tounkara, A., Doumbo, O.K., Diallo, D.A., Fujioka, H., Ho, M., Wellems, T.E. Nature (2005) [Pubmed]
  16. The beta+-IVS-I-6 (T-->C) mutation accounts for half of the thalassemia chromosomes in the Palestinian populations of the mountain regions. El-Latif, M.A., Filon, D., Rund, D., Oppenheim, A., Kanaan, M. Hemoglobin (2002) [Pubmed]
  17. Regulated expression of amplified human beta globin genes. Rund, D., Dobkin, C., Bank, A. Blood (1987) [Pubmed]
  18. Use of the gel test to follow up chimerism in ABO mismatched bone marrow transplantation patient: a case report. Lumkul, R., Nathalang, O., Arnutti, P., Janyatham, A., Torcharus, K., Krutvecheo, T., Sriphaisal, T. Journal of the Medical Association of Thailand = Chotmaihet thangphaet. (2005) [Pubmed]
  19. The picornavirus replication inhibitors HBB and guanidine in the echovirus-9 system: the significance of viral protein 2C. Klein, M., Hadaschik, D., Zimmermann, H., Eggers, H.J., Nelsen-Salz, B. J. Gen. Virol. (2000) [Pubmed]
  20. DNA methylation represses transcription in vivo. Siegfried, Z., Eden, S., Mendelsohn, M., Feng, X., Tsuberi, B.Z., Cedar, H. Nat. Genet. (1999) [Pubmed]
  21. Beta-globin locus is linked to the parathyroid hormone (PTH) locus and lies between the insulin and PTH loci in man. Antonarakis, S.E., Phillips, J.A., Mallonee, R.L., Kazazian, H.H., Fearon, E.R., Waber, P.G., Kronenberg, H.M., Ullrich, A., Meyers, D.A. Proc. Natl. Acad. Sci. U.S.A. (1983) [Pubmed]
  22. Inducible transcription of five globin genes in K562 human leukemia cells. Dean, A., Ley, T.J., Humphries, R.K., Fordis, M., Schechter, A.N. Proc. Natl. Acad. Sci. U.S.A. (1983) [Pubmed]
  23. Linkage map of the short arm of human chromosome 11: location of the genes for catalase, calcitonin, and insulin-like growth factor II. Kittur, S.D., Hoppener, J.W., Antonarakis, S.E., Daniels, J.D., Meyers, D.A., Maestri, N.E., Jansen, M., Korneluk, R.G., Nelkin, B.D., Kazazian, H.H. Proc. Natl. Acad. Sci. U.S.A. (1985) [Pubmed]
  24. Inhibition of beta protein 1 expression enhances beta-globin promoter activity and beta-globin mRNA levels in the human erythroleukemia (K562) cell line. Zoueva, O.P., Rodgers, G.P. Exp. Hematol. (2004) [Pubmed]
  25. Decreased expression of haemoglobin beta (HBB) gene in anaplastic thyroid cancer and recovery of its expression inhibits cell growth. Onda, M., Akaishi, J., Asaka, S., Okamoto, J., Miyamoto, S., Mizutani, K., Yoshida, A., Ito, K., Emi, M. Br. J. Cancer (2005) [Pubmed]
  26. Ionizing radiation and genetic risks. III. Nature of spontaneous and radiation-induced mutations in mammalian in vitro systems and mechanisms of induction of mutations by radiation. Sankaranarayanan, K. Mutat. Res. (1991) [Pubmed]
  27. Beta + thalassemia: aberrant splicing results from a single point mutation in an intron. Busslinger, M., Moschonas, N., Flavell, R.A. Cell (1981) [Pubmed]
  28. Functional effects of replacing human alpha- and beta-globins with their embryonic globin homologues in defined haemoglobin heterotetramers. He, Z., Lian, L., Asakura, T., Russell, J.E. Br. J. Haematol. (2000) [Pubmed]
  29. Beta -Globin mRNA decay in erythroid cells: UG site-preferred endonucleolytic cleavage that is augmented by a premature termination codon. Stevens, A., Wang, Y., Bremer, K., Zhang, J., Hoepfner, R., Antoniou, M., Schoenberg, D.R., Maquat, L.E. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  30. Hemoglobin Long Island is caused by a single mutation (adenine to cytosine) resulting in a failure to cleave amino-terminal methionine. Prchal, J.T., Cashman, D.P., Kan, Y.W. Proc. Natl. Acad. Sci. U.S.A. (1986) [Pubmed]
  31. Conserved CTCF insulator elements flank the mouse and human beta-globin loci. Farrell, C.M., West, A.G., Felsenfeld, G. Mol. Cell. Biol. (2002) [Pubmed]
  32. SATB1 family protein expressed during early erythroid differentiation modifies globin gene expression. Wen, J., Huang, S., Rogers, H., Dickinson, L.A., Kohwi-Shigematsu, T., Noguchi, C.T. Blood (2005) [Pubmed]
  33. Interaction of hnRNP A1 with snRNPs and pre-mRNAs: evidence for a possible role of A1 RNA annealing activity in the first steps of spliceosome assembly. Buvoli, M., Cobianchi, F., Riva, S. Nucleic Acids Res. (1992) [Pubmed]
  34. Strong linkage disequilibrium of a HbE variant with the (AT)9(T)5 repeat in the BP1 binding site upstream of the beta-globin gene in the Thai population. Ohashi, J., Naka, I., Patarapotikul, J., Hananantachai, H., Brittenham, G., Looareesuwan, S., Clark, A.G., Tokunaga, K. J. Hum. Genet. (2005) [Pubmed]
  35. Dynamics of association of origins of DNA replication with the nuclear matrix during the cell cycle. Djeliova, V., Russev, G., Anachkova, B. Nucleic Acids Res. (2001) [Pubmed]
  36. Physical mapping of the globin gene deletion in hereditary persistence of foetal haemoglobin (HPFH). Bernards, R., Flavell, R.A. Nucleic Acids Res. (1980) [Pubmed]
  37. High-mobility group protein 2 may be involved in the locus control region regulation of the beta-globin gene cluster. Lv, X., Xu, D.D., Liu, D.P., Li, L., Hao, D.L., Liang, C.C. Biochem. Cell Biol. (2002) [Pubmed]
  38. Dicer-dependent turnover of intergenic transcripts from the human beta-globin gene cluster. Haussecker, D., Proudfoot, N.J. Mol. Cell. Biol. (2005) [Pubmed]
  39. Autonomous developmental control of human embryonic globin gene switching in transgenic mice. Raich, N., Enver, T., Nakamoto, B., Josephson, B., Papayannopoulou, T., Stamatoyannopoulos, G. Science (1990) [Pubmed]
  40. Lineage-specific activators affect beta-globin locus chromatin in multipotent hematopoietic progenitors. Bottardi, S., Ross, J., Pierre-Charles, N., Blank, V., Milot, E. EMBO J. (2006) [Pubmed]
  41. Regulation of globin gene expression in human K562 cells by recombinant activin A. Frigon, N.L., Shao, L., Young, A.L., Maderazo, L., Yu, J. Blood (1992) [Pubmed]
  42. Human beta-globin locus control region HS5 contains CTCF- and developmental stage-dependent enhancer-blocking activity in erythroid cells. Tanimoto, K., Sugiura, A., Omori, A., Felsenfeld, G., Engel, J.D., Fukamizu, A. Mol. Cell. Biol. (2003) [Pubmed]
  43. Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted. Weksberg, R., Teshima, I., Williams, B.R., Greenberg, C.R., Pueschel, S.M., Chernos, J.E., Fowlow, S.B., Hoyme, E., Anderson, I.J., Whiteman, D.A. Hum. Mol. Genet. (1993) [Pubmed]
  44. A fusion gene in man: DNA sequence analysis of the abnormal globin gene of hemoglobin Miyada. Kimura, A., Ohta, Y., Fukumaki, Y., Takagi, Y. Biochem. Biophys. Res. Commun. (1984) [Pubmed]
  45. Genomic imprinting recapitulated in the human beta-globin locus. Tanimoto, K., Shimotsuma, M., Matsuzaki, H., Omori, A., Bungert, J., Engel, J.D., Fukamizu, A. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  46. Two mutations in the beta-globin polyadenylylation signal reveal extended transcripts and new RNA polyadenylylation sites. Rund, D., Dowling, C., Najjar, K., Rachmilewitz, E.A., Kazazian, H.H., Oppenheim, A. Proc. Natl. Acad. Sci. U.S.A. (1992) [Pubmed]
  47. Localization of the beta-globin gene by chromosomal in situ hybridization. Morton, C.C., Kirsch, I.R., Taub, R., Orkin, S.H., Brown, J.A. Am. J. Hum. Genet. (1984) [Pubmed]
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