Sickle-cell disease screening

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shyam Patel [2], Ayeesha Kattubadi, M.B.B.S[3]


Sickle cell disease is currently a disease for which newborn screening is available, mandated, and routinely performed in the United States.[1]


Screening for sickle cell disease was first offered in 1975 but had not been performed routinely.[2] By the 1980s, most states were performing newborn screening, based on evidence showing that early administration of antibiotics in patients with known sickle cell disease improved outcomes.[3] People who are known carriers of the disease often undergo genetic counseling before they have a child. A test to see if an unborn child has the disease takes either a blood sample from the unborn or a sample of amniotic fluid. Since taking a blood sample from a fetus has risks, the latter test is usually used. Currently, all 50 states in the USA require newborn screening for sickle cell disease.[1] It is important to note that there can be false-positive and false-negative results with newborn screening. This may cause overdiagnosis or underdiagnosis, respectively, of sickle-cell disease. The preferred test for screening is haemoglobin electrophoresis. [4] Multiple Point Of Care(POC) screening tests like Sickle scan, [5] HemoType SC [6] have been developed to be used in resource-limited setting with promising results.


  1. 1.0 1.1 Brandow AM, Liem R (2011). ""Sickle Cell Disease in the Emergency Department: Atypical Complications and Management"". Clin Pediatr Emerg Med. 12 (3): 202–212. doi:10.1016/j.cpem.2011.07.003. PMC 3172721. PMID 21927581.
  2. Colah RB, Mukherjee MB, Martin S, Ghosh K (2015). "Sickle cell disease in tribal populations in India". Indian J Med Res. 141 (5): 509–15. PMC 4510747. PMID 26139766.
  3. Burke W, Tarini B, Press NA, Evans JP (2011). "Genetic screening". Epidemiol Rev. 33: 148–64. doi:10.1093/epirev/mxr008. PMC 3166195. PMID 21709145.
  4. Pecker, Lydia H.; Lanzkron, Sophie (2021). "Sickle Cell Disease". Annals of Internal Medicine. 174 (1): ITC1–ITC16. doi:10.7326/AITC202101190. ISSN 0003-4819.
  5. Nguyen-Khoa T, Mine L, Allaf B, Ribeil JA, Remus C, Stanislas A, Gauthereau V, Enouz S, Kim JS, Yang X, Gluckman E, Beaudeux JL, Munnich A, Girot R, Cavazzana M (August 2018). "Sickle SCAN™ (BioMedomics) fulfills analytical conditions for neonatal screening of sickle cell disease". Ann Biol Clin (Paris). 76 (4): 416–420. doi:10.1684/abc.2018.1354. PMID 29976532.
  6. Steele C, Sinski A, Asibey J, Hardy-Dessources MD, Elana G, Brennan C, Odame I, Hoppe C, Geisberg M, Serrao E, Quinn CT (January 2019). "Point-of-care screening for sickle cell disease in low-resource settings: A multi-center evaluation of HemoTypeSC, a novel rapid test". Am J Hematol. 94 (1): 39–45. doi:10.1002/ajh.25305. PMC 6298816. PMID 30290004.