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Gene Review

HBD  -  hemoglobin, delta

Homo sapiens

Synonyms: Delta-globin, Hemoglobin delta chain, Hemoglobin subunit delta
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Disease relevance of HBD

  • An element upstream from the human delta-globin-encoding gene specifically enhances beta-globin reporter gene expression in murine erythroleukemia cells [1].
  • These findings have potential relevance for the future prospective treatment of inherited hemoglobinopathies based on the conversion of the low functioning delta-globin gene into a high functioning beta-like globin gene [2].
  • The finding of the new variant increases the genotype heterogeneity of the delta-globin gene in the Mediterranean area, and is relevant to the study and prevention of Cooley's Anemia [3].
  • We have tested this hypothesis for an element that covers the minimal distance between the thalassemia and HPFH deletions and is thought to be responsible for the difference between a deletion HPFH and deltabeta-thalassemia, located 5' of the delta-globin gene [4].
  • To analyze this deletion, we have cloned the abnormal 10 kb Bgl II fragment that contains the delta-globin gene into phage lambda vector EMBL4 [5].

High impact information on HBD


Biological context of HBD


Anatomical context of HBD

  • Identification of an alternate delta-globin mRNA in adult human erythroid cells [12].
  • The results show that both CACCC elements are able to activate the delta globin gene promoter in Cos7 and K562 cells, although to a different extent, whereas only the proximal CACCC element is effective in increasing the transcription efficiency in MEL cells [2].
  • In this report, we describe the isolation of a variant of the K562 cell line that actively expresses beta-globin messenger RNA (mRNA) and polypeptide and shows greatly reduced expression of the delta-globin genes [13].
  • No histone-associated regions are present at the sites tested within the beta- and delta-globin genes which are silent in the embryonic yolk sac [14].
  • In this report we describe two Sardinian families who have increased Hb A2 levels, normal red blood cell indices and normal globin chain synthesis and in whom DNA sequence analysis of beta and delta globin genes did not reveal any abnormality [15].

Associations of HBD with chemical compounds


Physical interactions of HBD


Other interactions of HBD


Analytical, diagnostic and therapeutic context of HBD


  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. Activation of the delta-globin gene by the beta-globin gene CACCC motif. Ristaldi, M.S., Casula, S., Porcu, S., Marongiu, M.F., Pirastu, M., Cao, A. Blood Cells Mol. Dis. (1999) [Pubmed]
  3. Hb A2-Monreale [delta146(HC3)His-->Arg], a novel delta chain variant detected in west Sicily. De Angioletti, M., Di Girgenti, C., Messineo, R., Capra, M., Carestia, C. Hemoglobin (2002) [Pubmed]
  4. Deletion of a region that is a candidate for the difference between the deletion forms of hereditary persistence of fetal hemoglobin and deltabeta-thalassemia affects beta- but not gamma-globin gene expression. Calzolari, R., McMorrow, T., Yannoutsos, N., Langeveld, A., Grosveld, F. EMBO J. (1999) [Pubmed]
  5. DNA sequence analysis of the Dutch beta zero-thalassemia deletion. Gilman, J.G., Abraham, J. Biomed. Biochim. Acta (1987) [Pubmed]
  6. Differences in human alpha-, beta- and delta-globin gene expression in monkey kidney cells. Humphries, R.K., Ley, T., Turner, P., Moulton, A.D., Nienhuis, A.W. Cell (1982) [Pubmed]
  7. Complete nucleotide sequence of the human delta-globin gene. Spritz, R.A., DeRiel, J.K., Forget, B.G., Weissman, S.M. Cell (1980) [Pubmed]
  8. The isolation and characterization of linked delta- and beta-globin genes from a cloned library of human DNA. Lawn, R.M., Fritsch, E.F., Parker, R.C., Blake, G., Maniatis, T. Cell (1978) [Pubmed]
  9. Delta-thalassemia due to a mutation in an erythroid-specific binding protein sequence 3' to the delta-globin gene. Moi, P., Loudianos, G., Lavinha, J., Murru, S., Cossu, P., Casu, R., Oggiano, L., Longinotti, M., Cao, A., Pirastu, M. Blood (1992) [Pubmed]
  10. Delta-thalassemia caused by disruption of the site for an erythroid-specific transcription factor, GATA-1, in the delta-globin gene promoter. Matsuda, M., Sakamoto, N., Fukumaki, Y. Blood (1992) [Pubmed]
  11. Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis. Trifillis, P., Ioannou, P., Schwartz, E., Surrey, S. Blood (1991) [Pubmed]
  12. Identification of an alternate delta-globin mRNA in adult human erythroid cells. Goh, S.H., Jackson, K.A., Terry Lee, Y., Miller, J.L. Genomics (2004) [Pubmed]
  13. Spontaneous delta- to beta-globin switching in K562 human leukemia cells. Mookerjee, B., Arcasoy, M.O., Atweh, G.F. Blood (1992) [Pubmed]
  14. Histone- and protamine-DNA association: conservation of different patterns within the beta-globin domain in human sperm. Gardiner-Garden, M., Ballesteros, M., Gordon, M., Tam, P.P. Mol. Cell. Biol. (1998) [Pubmed]
  15. Normal individuals with high Hb A2 levels. Gasperini, D., Cao, A., Paderi, L., Barella, S., Paglietti, E., Perseu, L., Loi, D., Galanello, R. Br. J. Haematol. (1993) [Pubmed]
  16. A DNA-binding factor in adult hematopoietic cells interacts with a pyrimidine-rich domain upstream from the human delta-globin gene. O'Neill, D., Bornschlegel, K., Flamm, M., Castle, M., Bank, A. Proc. Natl. Acad. Sci. U.S.A. (1991) [Pubmed]
  17. Rapid gene-specific repair of cisplatin lesions at the human DUG/DHFR locus comprising the divergent upstream gene and dihydrofolate reductase gene during early G1 phase of the cell cycle assayed by using the exonucleolytic activity of T4 DNA polymerase. Rampino, N.J., Bohr, V.A. Proc. Natl. Acad. Sci. U.S.A. (1994) [Pubmed]
  18. delta-Thalassemic phenotype due to two "novel" delta-globin gene mutations: CD11[GTC-->GGC (A8)-HbA2-Pylos] and CD 85[TTT-->TCT(F1)-HbA2-Etolia]. Drakoulakou, O., Papapanagiotou, E., Loutradi-Anagnostou, A., Papadakis, M. Hum. Mutat. (1997) [Pubmed]
  19. Gene specific DNA repair of damage induced in familial Alzheimer disease cells by ultraviolet irradiation or by nitrogen mustard. Link, C.J., Robbins, J.H., Bohr, V.A. Mutat. Res. (1995) [Pubmed]
  20. Role of Intergenic Human {gamma}-{delta}-Globin Sequences in Human Hemoglobin Switching and Reactivation of Fetal Hemoglobin in Adult Erythroid Cells. Bank, A., O'neill, D., Lopez, R., Pulte, D., Ward, M., Mantha, S., Richardson, C. Ann. N. Y. Acad. Sci. (2005) [Pubmed]
  21. Binding of HMG-I(Y) elicits structural changes in a silencer of the human beta-globin gene. Chase, M.B., Haga, S.B., Hankins, W.D., Williams, D.M., Bi, Z., Strovel, J.W., Obriecht, C., Berg, P.E. Am. J. Hematol. (1999) [Pubmed]
  22. Sequences located 3' to the breakpoint of the hereditary persistence of fetal hemoglobin-3 deletion exhibit enhancer activity and can modify the developmental expression of the human fetal A gamma-globin gene in transgenic mice. Anagnou, N.P., Perez-Stable, C., Gelinas, R., Costantini, F., Liapaki, K., Constantopoulou, M., Kosteas, T., Moschonas, N.K., Stamatoyannopoulos, G. J. Biol. Chem. (1995) [Pubmed]
  23. Expression of chimeric human beta- and delta-globin genes during erythroid differentiation. LaFlamme, S., Acuto, S., Markowitz, D., Vick, L., Landschultz, W., Bank, A. J. Biol. Chem. (1987) [Pubmed]
  24. A monoclonal antibody-linked immunoassay for hemoglobin H disease. Shyamala, M., Kiefer, C.R., Moscoso, H., Garver, F.A. Ann. Hematol. (1992) [Pubmed]
  25. The deletion in a type of delta 0-beta 0-thalassaemia begins in an inverted AluI repeat. Ottolenghi, S., Giglioni, B. Nature (1982) [Pubmed]
  26. Hb A2-Wrens or alpha 2 delta 2 98(FG5) Val----Met, an unstable delta chain variant identified by sequence analysis of amplified DNA. Codrington, J.F., Kutlar, F., Harris, H.F., Wilson, J.B., Stoming, T.A., Huisman, T.H. Biochim. Biophys. Acta (1989) [Pubmed]
  27. Retroviral transfer of a human beta-globin/delta-globin hybrid gene linked to beta locus control region hypersensitive site 2 aimed at the gene therapy of sickle cell disease. Takekoshi, K.J., Oh, Y.H., Westerman, K.W., London, I.M., Leboulch, P. Proc. Natl. Acad. Sci. U.S.A. (1995) [Pubmed]
  28. Laotian (delta beta) (0)-thalassemia: molecular characterization of a novel deletion associated with increased production of fetal hemoglobin. Zhang, J.W., Stamatoyannopoulos, G., Anagnou, N.P. Blood (1988) [Pubmed]
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