GeneID: 128


Common Name: HBG1-HBG2 Type: Intergenic Region
Chromosome: 11 (NC_000011.10) Locus: N/A
HUGO Symbol: HBG1-HBG2 Full Name: N/A
Exons: N/A Introns: N/A

The γ-globin genes (HBG1 and HBG2) are active during fetal growth and are normally expressed in the fetal liver, spleen and bone marrow. The combination of two γ-globin chains and two α-globin chains forms fetal haemoglobin (HbF; α2γ2). The HBG genes are the result of a 5 kb tandem duplication and differ at position 136 of the HBG chain to encode glutamic acid (Gγ; HBG2) or alanine (Aγ; HBG1). HbF is normally replaced by adult haemoglobin (HbA) at birth. In some β-thalassaemias and related conditions, γ-globin chain production continues into adulthood. The order of the genes in the beta-globin cluster is: 5'-ε(HBE)-Gγ(HBG2)-Aγ(HBG1)-ψβ(HBBP1)-δ(HBD)-β(HBB)-3'. Polymorphisms in this intergenic region (HBG1-HBG2) associated with HbF levels in sickle cell patients.

Synonyms: N/A


External Links

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Sequence Viewer

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Publications / Origin

  1. Schroeder WA, Huisman TH, Shelton JR, Shelton JB, Kleihauer EF, Dozy AM, Robberson B, Evidence for multiple structural genes for the gamma chain of human fetal hemoglobin., Proc. Natl. Acad. Sci. U.S.A. , 60(2), 537-44, 1968 PubMed
  2. Uda M, Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W, Usala G, Busonero F, Maschio A, Albai G, Piras MG, Sestu N, Lai S, Dei M, Mulas A, Crisponi L, Naitza S, Asunis I, Deiana M, Nagaraja R, Perseu L, Satta S, Cipollina MD, Sollaino C, Moi P, Hirschhorn JN, Orkin SH, Abecasis GR, Schlessinger D, Cao A, Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia., Proc. Natl. Acad. Sci. U.S.A. , 105(5), 1620-5, 2008 PubMed
  3. Sherva R, Sripichai O, Abel K, Ma Q, Whitacre J, Angkachatchai V, Makarasara W, Winichagoon P, Svasti S, Fucharoen S, Braun A, Farrer LA, Genetic modifiers of Hb E/beta0 thalassemia identified by a two-stage genome-wide association study., BMC Med. Genet. , 11(0), 51, 2010 PubMed
Created on 2016-04-27 16:11:56, Last reviewed on 2016-04-27 16:28:13 (Show full history)

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