Sickle-cell disease risk factors

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

Overview

There are no specific risk factors for sickle cell disease.

Risk Factors

Besides race, there are no specific risk factors for sickle cell disease. Sickle cell disease is a monogenetic disease, meaning that one gene mutations causes the disease. Thus environmental factors do not play a major role in acquisition of the disease. The disease occurs at birth after a person inherits 2 sickle cell alleles, one from each parent. Certain endemic regions contain a high prevalence of sickle cell alleles.[1] The degree of fetal hemoglobin production is related to the severe of disease: higher fetal hemoglobin confers lower disease morbidity and thus is a favorable risk factor/modifier.[2]

The racial groups who are at highest risk for sickle cell disease include Africans, African Americans, Indians, and persons of Mediterranean descent. These groups have the highest frequency of the sickle cell allele.

There are some risk factors for precipitation of sickle cell crises, such as dehydration, low oxygen levels, medication nonadherence, and cold exposure. Patients should be educated about these risk factors so that sickle cell crises can be prevented.

References

  1. Makani J, Ofori-Acquah SF, Nnodu O, Wonkam A, Ohene-Frempong K (2013). "Sickle cell disease: new opportunities and challenges in Africa". ScientificWorldJournal. 2013: 193252. doi:10.1155/2013/193252. PMC 3988892. PMID 25143960.
  2. Kutlar A, Ataga K, Reid M, Vichinsky EP, Neumayr L, Blair-Britt L; et al. (2012). "A phase 1/2 trial of HQK-1001, an oral fetal globin inducer, in sickle cell disease". Am J Hematol. 87 (11): 1017–21. doi:10.1002/ajh.23306. PMC 3904792. PMID 22887019.

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