Sickle-cell disease causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shyam Patel [2]

Overview

Sickle-cell disease is caused by a mutation in the beta-globin chain of hemoglobin.

Causes

The cause of sickle cell disease is based on a point mutation at the 6th position of the beta-globin chain of hemoglobin, located on chromosome 11. The genetic mutation that occurs in the HBB gene results in replacement of glutamic acid for valine.[1] This amino acid substitution results in increased hydrophobic interactions, causing a sickled shape of red blood cells.[2] Sickle cell disease is characterized by autosomal recessive inheritance, so the direct cause is due to inheritance of 2 sickle cell alleles (one from each parent).

The causes of other subtypes of sickle cell diseases (e.g. HbC disease or sickle cell trait) is based on the inheritance of various types of beta-globin alleles. For example, HbSC disease is caused by having one parent with HbC (a substitution of lysine for glutamic acid) and one parent with HbS (a substitution of valine for glutamic acid).

References

  1. Saraf SL, Molokie RE, Nouraie M, Sable CA, Luchtman-Jones L, Ensing GJ; et al. (2014). "Differences in the clinical and genotypic presentation of sickle cell disease around the world". Paediatr Respir Rev. 15 (1): 4–12. doi:10.1016/j.prrv.2013.11.003. PMC 3944316. PMID 24361300.
  2. Ballas SK, Kesen MR, Goldberg MF, Lutty GA, Dampier C, Osunkwo I; et al. (2012). "Beyond the definitions of the phenotypic complications of sickle cell disease: an update on management". ScientificWorldJournal. 2012: 949535. doi:10.1100/2012/949535. PMC 3415156. PMID 22924029.



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