GeneID: 130

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

Number of entries/variants: 2

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