GeneID: 130



Names

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

Description:
The delta (HBD) and beta (HBB) genes comprise the two adult globin genes on the beta globin locus on chromosome 11. The globin genes are arranged as 5'-ε(HBE)-Gγ(HBG2)-Aγ(HBG1)-ψβ(HBBP1)-δ(HBD)-β(HBB)-3' and are expressed sequentially in a tissue- and developmental-specific manner under the control of the locus control region (βLCR), the most important regulatory element in the locus, located upstream of the globin genes. In adults, HBB expression levels are higher than those of HBD, resulting in the production of HbA (α2β2), which constitutes about 97% of the total haemoglobin (Hb), and HbA2 (α2δ2), which froms the minor adult Hb (generally <3%). Mutations in HBB associate with the most common inherited β-globin gene disorders, such as β-thalassaemia and sickle cell disease. Mutations in HBD are assumed to be physiologically reduntant with clinical relevance solely in the diagnosis of β-globin disorders. Polymorphisms in this intergenic region (HBB-HBD) associated with HbF levels in sickle cell patients.

Synonyms: N/A

Comments:
N/A

External Links

No available links

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage.

Publications / Origin

  1. 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
  2. Schechter AN, Hemoglobin research and the origins of molecular medicine., Blood , 112(10), 3927-38, 2008 PubMed
Created on 2016-04-27 16:22:42, Last reviewed on (Show full history)


Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.

Please publish modules in offcanvas position.