HBD

Hemoglobin subunit delta is a protein that in humans is encoded by the HBD gene.^[1]

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′.^[2]

Clinical significance

Mutations in the delta-globin gene are associated with Delta-thalassemia.^[2]

References

↑ 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. PMID 2649166.
↑ ^2.0 ^2.1 “Entrez Gene: HBD hemoglobin, delta”.

Further reading

Schillirò G, Russo-Mancuso G, Dibenedetto SP, et al. (1992). “Six rare hemoglobin variants found in Sicily”. Hemoglobin. 15 (5): 431–7. doi:10.3109/03630269108998862. PMID 1802885.
Collins FS, Weissman SM (1985). “The molecular genetics of human hemoglobin”. Prog. Nucleic Acid Res. Mol. Biol. 31: 315–462. PMID 6397774.
Giardina B, Messana I, Scatena R, Castagnola M (1995). “The multiple functions of hemoglobin”. Crit. Rev. Biochem. Mol. Biol. 30 (3): 165–96. doi:10.3109/10409239509085142. PMID 7555018.

[pmid2649166-1] 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. PMID 2649166.

[entrez-2] 2.0 ^2.1 “Entrez Gene: HBD hemoglobin, delta”.

[1]

[2]

HBD

Function

Clinical significance

See also

References

Further reading

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