- HBB
Beta globin (HBB, β-globin) is a protein that, along with alpha globin (HBA), makes up the most common form of
hemoglobin in adult humans.cite web | title = Entrez Gene: HBB hemoglobin, beta| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3043| accessdate = ] The normal adult hemoglobintetramer consists of two alpha chains and two beta chains.Gene locus
The gene is located in the β-globin locus. Expression of beta globin and the neighboring globins in the β-globin locus is controlled by single
locus control region (LCR).cite journal | author = Levings PP, Bungert J | title = The human beta-globin locus control region | journal = Eur. J. Biochem. | volume = 269 | issue = 6 | pages = 1589–99 | year = 2002 | month = March | pmid = 11895428 | doi = 10.1046/j.1432-1327.2002.02797.x | url = | issn = ] The order of the genes in the beta-globin cluster is 5' - epsilon – gamma-G – gamma-A – delta – beta - 3'.Disease linkage
Mutant beta globin is responsible for the sickling of red blood cells seen in
sickle cell anemia . Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia.ee also
Human β-globin locus References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Higgs DR, Vickers MA, Wilkie AO, "et al." |title=A review of the molecular genetics of the human alpha-globin gene cluster. |journal=Blood |volume=73 |issue= 5 |pages= 1081-104 |year= 1989 |pmid= 2649166 |doi=
*cite journal | author=Giardina B, Messana I, Scatena R, Castagnola M |title=The multiple functions of hemoglobin. |journal=Crit. Rev. Biochem. Mol. Biol. |volume=30 |issue= 3 |pages= 165-96 |year= 1995 |pmid= 7555018 |doi=
*cite journal | author=Salzano AM, Carbone V, Pagano L, "et al." |title=Hb Vila Real [beta36(C2)Pro-->His] in Italy: characterization of the amino acid substitution and the DNA mutation. |journal=Hemoglobin |volume=26 |issue= 1 |pages= 21-31 |year= 2002 |pmid= 11939509 |doi=
*cite journal | author=Frischknecht H, Dutly F |title=A 65 bp duplication/insertion in exon II of the beta globin gene causing beta0-thalassemia. |journal=Haematologica |volume=92 |issue= 3 |pages= 423-4 |year= 2007 |pmid= 17339197 |doi=PBB_Controls
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