Sickle-cell disease screening: Difference between revisions
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==Screening== | ==Screening== | ||
Screening for sickle cell disease was first offered in 1975 but had not been performed routinely.<ref name="pmid26139766">{{cite journal| author=Colah RB, Mukherjee MB, Martin S, Ghosh K| title=Sickle cell disease in tribal populations in India. | journal=Indian J Med Res | year= 2015 | volume= 141 | issue= 5 | pages= 509-15 | pmid=26139766 | doi= | pmc=4510747 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26139766 }} </ref> 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.<ref name="pmid21709145">{{cite journal| author=Burke W, Tarini B, Press NA, Evans JP| title=Genetic screening. | journal=Epidemiol Rev | year= 2011 | volume= 33 | issue= | pages= 148-64 | pmid=21709145 | doi=10.1093/epirev/mxr008 | pmc=3166195 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21709145 }} </ref> 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.<ref name="pmid21927581">{{cite journal| author=Brandow AM, Liem R| title="Sickle Cell Disease in the Emergency Department: Atypical Complications and Management" | journal=Clin Pediatr Emerg Med | year= 2011 | volume= 12 | issue= 3 | pages= 202-212 | pmid=21927581 | doi=10.1016/j.cpem.2011.07.003 | pmc=3172721 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21927581 }} </ref> 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]]. <ref name="PeckerLanzkron2021">{{cite journal|last1=Pecker|first1=Lydia H.|last2=Lanzkron|first2=Sophie|title=Sickle Cell Disease|journal=Annals of Internal Medicine|volume=174|issue=1|year=2021|pages=ITC1–ITC16|issn=0003-4819|doi=10.7326/AITC202101190}}</ref> Multiple | Screening for sickle cell disease was first offered in 1975 but had not been performed routinely.<ref name="pmid26139766">{{cite journal| author=Colah RB, Mukherjee MB, Martin S, Ghosh K| title=Sickle cell disease in tribal populations in India. | journal=Indian J Med Res | year= 2015 | volume= 141 | issue= 5 | pages= 509-15 | pmid=26139766 | doi= | pmc=4510747 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26139766 }} </ref> 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.<ref name="pmid21709145">{{cite journal| author=Burke W, Tarini B, Press NA, Evans JP| title=Genetic screening. | journal=Epidemiol Rev | year= 2011 | volume= 33 | issue= | pages= 148-64 | pmid=21709145 | doi=10.1093/epirev/mxr008 | pmc=3166195 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21709145 }} </ref> 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.<ref name="pmid21927581">{{cite journal| author=Brandow AM, Liem R| title="Sickle Cell Disease in the Emergency Department: Atypical Complications and Management" | journal=Clin Pediatr Emerg Med | year= 2011 | volume= 12 | issue= 3 | pages= 202-212 | pmid=21927581 | doi=10.1016/j.cpem.2011.07.003 | pmc=3172721 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21927581 }} </ref> 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]]. <ref name="PeckerLanzkron2021">{{cite journal|last1=Pecker|first1=Lydia H.|last2=Lanzkron|first2=Sophie|title=Sickle Cell Disease|journal=Annals of Internal Medicine|volume=174|issue=1|year=2021|pages=ITC1–ITC16|issn=0003-4819|doi=10.7326/AITC202101190}}</ref> Multiple Point Of Care(POC) screening tests like Sickle scan, <ref> {{cite journal |vauthors=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 |title=Sickle SCAN™ (BioMedomics) fulfills analytical conditions for neonatal screening of sickle cell disease |journal=Ann Biol Clin (Paris) |volume=76 |issue=4 |pages=416–420 |date=August 2018 |pmid=29976532 |doi=10.1684/abc.2018.1354 |url=}}</ref> HemoType SC <ref> {{cite journal |vauthors=Steele C, Sinski A, Asibey J, Hardy-Dessources MD, Elana G, Brennan C, Odame I, Hoppe C, Geisberg M, Serrao E, Quinn CT |title=Point-of-care screening for sickle cell disease in low-resource settings: A multi-center evaluation of HemoTypeSC, a novel rapid test |journal=Am J Hematol |volume=94 |issue=1 |pages=39–45 |date=January 2019 |pmid=30290004 |pmc=6298816 |doi=10.1002/ajh.25305 |url=}} </ref> have been developed to be used in resource-limited setting with promising results. | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
Revision as of 05:10, 10 April 2021
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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 currently a disease for which newborn screening is available, mandated, and routinely performed in the United States.[1]
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
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ Pecker, Lydia H.; Lanzkron, Sophie (2021). "Sickle Cell Disease". Annals of Internal Medicine. 174 (1): ITC1–ITC16. doi:10.7326/AITC202101190. ISSN 0003-4819.
- ↑ 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.
- ↑ 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.