GeneID: 131

Description:
The delta (HBD) and beta (HBB) genes comprise the two adult globin genes on the beta globin locus on chromosome 11. The expression of HBB is greater than that of HBD resulting in the production of HbA (α2β2), which constitutes about 97% of the total haemoglobin. Two delta chains together with two alpha chains form HbA2 (α2δ2), the minor fraction of adult haemoglobin (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. The globin genes are arranged as 5'-ε(HBE)-Gγ(HBG2)-Aγ(HBG1)-ψβ(HBBP1)-δ(HBD)-β(HBB)-3' on the β-globin locus. HBBP1 is classified as a pseudogene, characterized by the presence of several stop codons that were once thought to be mutations. Polymorphisms in this intergenic region (HBD-HBBP1) associated with HbF levels in sickle cell patients.

Synonyms: N/A

Comments:
N/A

Number of entries/variants: 10

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2. 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
3. Liu L, Pertsemlidis A, Ding LH, Story MD, Steinberg MH, Sebastiani P, Hoppe C, Ballas SK, Pace BS, A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease., Exp. Biol. Med. (Maywood) , 2016 PubMed