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Sickle cell trait

MedGen UID:
20750
Concept ID:
C0037054
Disease or Syndrome
Synonyms: Cell Trait, Sickle; Cell Traits, Sickle; Sickle Cell Trait; Sickle Cell Traits; Trait, Sickle Cell; Traits, Sickle Cell
SNOMED CT: AS - Sickle cell trait (16402000); Heterozygous for Hb S (16402000); Drepanocytosis (16402000); RBC's - sickle cells present (16402000); Sickle cells present (16402000); Sickle cell trait (16402000); Hemoglobin S-A disorder (16402000); Hemoglobin A-S genotype (16402000); Hemoglobin S trait (16402000); Heterozygous hemoglobin S (16402000)

Definition

An individual who is heterozygous for the mutation that causes sickle cell anemia. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSickle cell trait

Professional guidelines

PubMed

Sweeney R, O'Sullivan M
Ir Med J 2022 Aug 18;115(7):631. PMID: 36300706
Trpkov K, Hes O, Williamson SR, Adeniran AJ, Agaimy A, Alaghehbandan R, Amin MB, Argani P, Chen YB, Cheng L, Epstein JI, Cheville JC, Comperat E, da Cunha IW, Gordetsky JB, Gupta S, He H, Hirsch MS, Humphrey PA, Kapur P, Kojima F, Lopez JI, Maclean F, Magi-Galluzzi C, McKenney JK, Mehra R, Menon S, Netto GJ, Przybycin CG, Rao P, Rao Q, Reuter VE, Saleeb RM, Shah RB, Smith SC, Tickoo S, Tretiakova MS, True L, Verkarre V, Wobker SE, Zhou M, Gill AJ
Mod Pathol 2021 Jul;34(7):1392-1424. Epub 2021 Mar 4 doi: 10.1038/s41379-021-00779-w. PMID: 33664427
Piccin A, Fleming P, Eakins E, McGovern E, Smith OP, McMahon C
J Ir Dent Assoc 2008 Apr-May;54(2):75-9. PMID: 18578383

Curated

American College of Medical Genetics and Genomics, Carrier Screening ACT Sheet, Sickle Cell Carrier/Trait, 2023

ACMG ACT, Hemoglobin S/Beta Plus Thalassemia , 2023

ACMG Algorithm, FSA: Hemoglobin HbS/B+ Screening Result, 2023

ACMG Algorithm, FAS: Sickle Cell Trait Screening Result, 2023

Recent clinical studies

Etiology

Cai Y, Franceschini N, Surapaneni A, Garrett ME, Tahir UA, Hsu L, Telen MJ, Yu B, Tang H, Li Y, Liu S, Gerszten RE, Coresh J, Manson JE, Wojcik GL, Kooperberg C, Auer PL, Foster MW, Grams ME, Ashley-Koch AE, Raffield LM, Reiner AP
Clin J Am Soc Nephrol 2023 Nov 1;18(11):1416-1425. Epub 2023 Aug 3 doi: 10.2215/CJN.0000000000000257. PMID: 37533140Free PMC Article
Christian J, Lanzkron S, Naik RP
Best Pract Res Clin Haematol 2022 Sep;35(3):101382. Epub 2022 Sep 7 doi: 10.1016/j.beha.2022.101382. PMID: 36494153Free PMC Article
Wilson S, Ellsworth P, Key NS
Br J Haematol 2020 Aug;190(3):328-335. Epub 2020 Feb 17 doi: 10.1111/bjh.16518. PMID: 32064587Free PMC Article
Shephard RJ
J Sports Med Phys Fitness 2016 Dec;56(12):1562-1573. Epub 2016 Feb 3 PMID: 26842866
Vigilante JA, DiGeorge NW
Undersea Hyperb Med 2014 May-Jun;41(3):223-8. PMID: 24984317

Diagnosis

Elliott A, Bruner E
Arch Pathol Lab Med 2019 Dec;143(12):1556-1561. Epub 2019 Mar 11 doi: 10.5858/arpa.2017-0492-RS. PMID: 30855171
Kotila TR
Acta Haematol 2016;136(3):147-51. Epub 2016 Jul 16 doi: 10.1159/000446526. PMID: 27423233
Naik RP, Haywood C Jr
Hematology Am Soc Hematol Educ Program 2015;2015(1):160-7. doi: 10.1182/asheducation-2015.1.160. PMID: 26637716Free PMC Article
Kneut C
Issues Compr Pediatr Nurs 1980 Dec;4(5-6):19-27. doi: 10.3109/01460868009009786. PMID: 6909203
Worrall VT, Butera V
J Bone Joint Surg Am 1976 Dec;58(8):1161-3. PMID: 1002763

Therapy

Christian J, Lanzkron S, Naik RP
Best Pract Res Clin Haematol 2022 Sep;35(3):101382. Epub 2022 Sep 7 doi: 10.1016/j.beha.2022.101382. PMID: 36494153Free PMC Article
Noubouossie D, Key NS
Thromb Res 2015 Feb;135 Suppl 1:S46-8. Epub 2015 Feb 9 doi: 10.1016/S0049-3848(15)50442-8. PMID: 25903535
Vigilante JA, DiGeorge NW
Undersea Hyperb Med 2014 May-Jun;41(3):223-8. PMID: 24984317
Mitchell BL
J Natl Med Assoc 2007 Mar;99(3):300-5. PMID: 17393956Free PMC Article
Shaskey DJ, Green GA
Sports Med 2000 Jan;29(1):27-38. doi: 10.2165/00007256-200029010-00003. PMID: 10688281

Prognosis

Trpkov K, Hes O, Williamson SR, Adeniran AJ, Agaimy A, Alaghehbandan R, Amin MB, Argani P, Chen YB, Cheng L, Epstein JI, Cheville JC, Comperat E, da Cunha IW, Gordetsky JB, Gupta S, He H, Hirsch MS, Humphrey PA, Kapur P, Kojima F, Lopez JI, Maclean F, Magi-Galluzzi C, McKenney JK, Mehra R, Menon S, Netto GJ, Przybycin CG, Rao P, Rao Q, Reuter VE, Saleeb RM, Shah RB, Smith SC, Tickoo S, Tretiakova MS, True L, Verkarre V, Wobker SE, Zhou M, Gill AJ
Mod Pathol 2021 Jul;34(7):1392-1424. Epub 2021 Mar 4 doi: 10.1038/s41379-021-00779-w. PMID: 33664427
Maier AG, Matuschewski K, Zhang M, Rug M
Trends Parasitol 2019 Jun;35(6):481-482. Epub 2018 Dec 27 doi: 10.1016/j.pt.2018.11.010. PMID: 30595467
Piel FB, Hay SI, Gupta S, Weatherall DJ, Williams TN
PLoS Med 2013;10(7):e1001484. Epub 2013 Jul 16 doi: 10.1371/journal.pmed.1001484. PMID: 23874164Free PMC Article
James CM, Jenkins GC, Stephens AD
Med Sci Law 1989 Jan;29(1):1-3. doi: 10.1177/002580248902900101. PMID: 2747458
Worrall VT, Butera V
J Bone Joint Surg Am 1976 Dec;58(8):1161-3. PMID: 1002763

Clinical prediction guides

Cai Y, Franceschini N, Surapaneni A, Garrett ME, Tahir UA, Hsu L, Telen MJ, Yu B, Tang H, Li Y, Liu S, Gerszten RE, Coresh J, Manson JE, Wojcik GL, Kooperberg C, Auer PL, Foster MW, Grams ME, Ashley-Koch AE, Raffield LM, Reiner AP
Clin J Am Soc Nephrol 2023 Nov 1;18(11):1416-1425. Epub 2023 Aug 3 doi: 10.2215/CJN.0000000000000257. PMID: 37533140Free PMC Article
Gilpin-Macfoy F, Perilla MJ, Koehly LM
J Genet Couns 2023 Aug;32(4):916-925. Epub 2023 Mar 30 doi: 10.1002/jgc4.1702. PMID: 36994658
Trpkov K, Hes O, Williamson SR, Adeniran AJ, Agaimy A, Alaghehbandan R, Amin MB, Argani P, Chen YB, Cheng L, Epstein JI, Cheville JC, Comperat E, da Cunha IW, Gordetsky JB, Gupta S, He H, Hirsch MS, Humphrey PA, Kapur P, Kojima F, Lopez JI, Maclean F, Magi-Galluzzi C, McKenney JK, Mehra R, Menon S, Netto GJ, Przybycin CG, Rao P, Rao Q, Reuter VE, Saleeb RM, Shah RB, Smith SC, Tickoo S, Tretiakova MS, True L, Verkarre V, Wobker SE, Zhou M, Gill AJ
Mod Pathol 2021 Jul;34(7):1392-1424. Epub 2021 Mar 4 doi: 10.1038/s41379-021-00779-w. PMID: 33664427
Elliott A, Bruner E
Arch Pathol Lab Med 2019 Dec;143(12):1556-1561. Epub 2019 Mar 11 doi: 10.5858/arpa.2017-0492-RS. PMID: 30855171
Piel FB, Hay SI, Gupta S, Weatherall DJ, Williams TN
PLoS Med 2013;10(7):e1001484. Epub 2013 Jul 16 doi: 10.1371/journal.pmed.1001484. PMID: 23874164Free PMC Article

Recent systematic reviews

Lopes A, Dantas MT, Ladeia AMT
Arq Bras Cardiol 2022 Dec;119(6):893-899. doi: 10.36660/abc.20220207. PMID: 36417618Free PMC Article
Abu-Shaheen A, Dahan D, Henaa H, Nofal A, Abdelmoety DA, Riaz M, AlSheef M, Almatary A, AlFayyad I
Expert Rev Hematol 2022 Oct;15(10):893-909. Epub 2022 Oct 18 doi: 10.1080/17474086.2022.2132225. PMID: 36217841
Naik RP, Smith-Whitley K, Hassell KL, Umeh NI, de Montalembert M, Sahota P, Haywood C Jr, Jenkins J, Lloyd-Puryear MA, Joiner CH, Bonham VL, Kato GJ
Ann Intern Med 2018 Nov 6;169(9):619-627. Epub 2018 Oct 30 doi: 10.7326/M18-1161. PMID: 30383109Free PMC Article
Alvarez O, Rodriguez MM, Jordan L, Sarnaik S
Pediatr Blood Cancer 2015 Oct;62(10):1694-9. Epub 2015 Jun 5 doi: 10.1002/pbc.25592. PMID: 26053587
Owusu ED, Visser BJ, Nagel IM, Mens PF, Grobusch MP
Clin Infect Dis 2015 Feb 15;60(4):612-26. Epub 2014 Oct 23 doi: 10.1093/cid/ciu832. PMID: 25344542

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • ACMG ACT, 2023
      American College of Medical Genetics and Genomics, Carrier Screening ACT Sheet, Sickle Cell Carrier/Trait, 2023
    • ACMG ACT, 2023
      ACMG ACT, Hemoglobin S/Beta Plus Thalassemia , 2023
    • ACMG Algorithm, 2023
      ACMG Algorithm, FSA: Hemoglobin HbS/B+ Screening Result, 2023
    • ACMG Algorithm, 2023
      ACMG Algorithm, FAS: Sickle Cell Trait Screening Result, 2023

    Consumer resources

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