Aliases HBD Ensembl ENSG00000223609 | Entrez 3045 | |
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External IDs HomoloGene: 128037 GeneCards: HBD |
Function
The delta (HBD) and beta (HBB) genes are normally expressed in the adult: two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin. Two alpha chains plus two delta chains constitute HbA2, which with HbF comprises the remaining 3% of adult hemoglobin. Five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5' - epsilon – gamma-G – gamma-A – delta – beta - 3'.
Clinical significance
Mutations in the delta-globin gene are associated with Delta-thalassemia.
References
HBD Wikipedia(Text) CC BY-SA