Delta_hemoglobin

HBD

HBD

Mammalian protein found in Homo sapiens

For other uses, see HBD (disambiguation).

Hemoglobin subunit delta is a protein that in humans is encoded by the HBD gene.[3]

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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'.[4]

Clinical significance

Mutations in the delta-globin gene are associated with Delta-thalassemia.[4]

See also

References

  1. [1]
    GRCh38: Ensembl release 89: ENSG00000223609 – Ensembl, May 2017
  2. [2]
    "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. [3]
    Higgs DR, Vickers MA, Wilkie AO, Pretorius IM, Jarman AP, Weatherall DJ (May 1989). "A review of the molecular genetics of the human alpha-globin gene cluster". Blood. 73 (5): 1081–104. doi:10.1182/blood.V73.5.1081.1081. PMID 2649166.
  4. [4]
    "Entrez Gene: HBD hemoglobin, delta".

Further reading


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