
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.
Sickle-cell disease screening
Introduction
Overview
Overview
Sickle cell disease is currently a disease for which newborn screening is available, mandated, and routinely performed in the United States.[1]
Screening
Screening
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.
References
References
- β 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): 202β212. doi:10.1016/j.cpem.2011.07.003. PMCΒ 3172721. PMIDΒ 21927581.
- β Colah RB, Mukherjee MB, Martin S, Ghosh K (2015). “Sickle cell disease in tribal populations in India”. Indian J Med Res. 141 (5): 509β15. PMCΒ 4510747. PMIDΒ 26139766.
- β Burke W, Tarini B, Press NA, Evans JP (2011). “Genetic screening”. Epidemiol Rev. 33: 148β64. doi:10.1093/epirev/mxr008. PMCΒ 3166195. PMIDΒ 21709145.
- β Pecker, Lydia H.; Lanzkron, Sophie (2021). “Sickle Cell Disease”. Annals of Internal Medicine. 174 (1): ITC1βITC16. doi:10.7326/AITC202101190. ISSNΒ 0003-4819.
- β 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 SCANβ’ (BioMedomics) fulfills analytical conditions for neonatal screening of sickle cell disease”. Ann Biol Clin (Paris). 76 (4): 416β420. doi:10.1684/abc.2018.1354. PMIDΒ 29976532.
- β 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): 39β45. doi:10.1002/ajh.25305. PMCΒ 6298816. PMIDΒ 30290004.
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]
