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Health Dictionary

Reliable, easy-to-read patient information on common medical conditions β€” written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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HBD

Introduction

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

Function

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

Clinical significance

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

See also

See also

References

References

  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. PMIDΒ 2649166.
  2. ↑ 2.0 2.1 “Entrez Gene: HBD hemoglobin, delta”.
Further reading

Further reading

  • SchillirΓ² 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. PMIDΒ 1802885.
  • Collins FS, Weissman SM (1985). “The molecular genetics of human hemoglobin”. Prog. Nucleic Acid Res. Mol. Biol. 31: 315–462. PMIDΒ 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. PMIDΒ 7555018.