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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

New developments in existing WHO entities and evolving molecular concepts: The Genitourinary Pathology Society (GUPS) update on renal neoplasia.
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
The current state of sickle cell trait: implications for reproductive and genetic counseling.
Pecker LH, Naik RP
Hematology Am Soc Hematol Educ Program 2018 Nov 30;2018(1):474-481. doi: 10.1182/asheducation-2018.1.474. PMID: 30504348Free PMC Article
Sickle cell disease and dental treatment.
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

Pregnancy in sickle cell trait: what we do and don't know.
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
Sickle cell trait: what are the costs and benefits of screening?
Shephard RJ
J Sports Med Phys Fitness 2016 Dec;56(12):1562-1573. Epub 2016 Feb 3 PMID: 26842866
Renal medullary carcinoma and sickle cell trait: A systematic review.
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
Sickle cell trait and sudden death--bringing it home.
Mitchell BL
J Natl Med Assoc 2007 Mar;99(3):300-5. PMID: 17393956Free PMC Article
Sports haematology.
Shaskey DJ, Green GA
Sports Med 2000 Jan;29(1):27-38. doi: 10.2165/00007256-200029010-00003. PMID: 10688281

Diagnosis

Renal Medullary Carcinoma.
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
Sickle Cell Trait: A Benign State?
Kotila TR
Acta Haematol 2016;136(3):147-51. Epub 2016 Jul 16 doi: 10.1159/000446526. PMID: 27423233
Sickle cell trait diagnosis: clinical and social implications.
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
Sports haematology.
Shaskey DJ, Green GA
Sports Med 2000 Jan;29(1):27-38. doi: 10.2165/00007256-200029010-00003. PMID: 10688281
Sickle-cell anemia.
Kneut C
Issues Compr Pediatr Nurs 1980 Dec;4(5-6):19-27. doi: 10.3109/01460868009009786. PMID: 6909203

Therapy

Sickle cell disease and venous thromboembolism in pregnancy and the puerperium.
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
Sickle cell trait and diving: review and recommendations.
Vigilante JA, DiGeorge NW
Undersea Hyperb Med 2014 May-Jun;41(3):223-8. PMID: 24984317
Sickle cell disease.
Driscoll MC
Pediatr Rev 2007 Jul;28(7):259-68. doi: 10.1542/pir.28-7-259. PMID: 17601938
Sickle cell trait and sudden death--bringing it home.
Mitchell BL
J Natl Med Assoc 2007 Mar;99(3):300-5. PMID: 17393956Free PMC Article
Sports haematology.
Shaskey DJ, Green GA
Sports Med 2000 Jan;29(1):27-38. doi: 10.2165/00007256-200029010-00003. PMID: 10688281

Prognosis

New developments in existing WHO entities and evolving molecular concepts: The Genitourinary Pathology Society (GUPS) update on renal neoplasia.
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
Plasmodium falciparum.
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
Sickle cell disease and venous thromboembolism in pregnancy and the puerperium.
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
Sickle cell disease.
Driscoll MC
Pediatr Rev 2007 Jul;28(7):259-68. doi: 10.1542/pir.28-7-259. PMID: 17601938
Sickle cell trait.
James CM, Jenkins GC, Stephens AD
Med Sci Law 1989 Jan;29(1):1-3. doi: 10.1177/002580248902900101. PMID: 2747458

Clinical prediction guides

SMARCB1 regulates the hypoxic stress response in sickle cell trait.
Soeung M, Perelli L, Chen Z, Dondossola E, Ho IL, Carbone F, Zhang L, Khan H, Le CN, Zhu C, Peoples MD, Feng N, Jiang S, Zacharias NM, Minelli R, Shapiro DD, Deem AK, Gao S, Cheng EH, Lucchetti D, Walker CL, Carugo A, Giuliani V, Heffernan TP, Viale A, Tannir NM, Draetta GF, Msaouel P, Genovese G
Proc Natl Acad Sci U S A 2023 May 23;120(21):e2209639120. Epub 2023 May 15 doi: 10.1073/pnas.2209639120. PMID: 37186844Free PMC Article
New developments in existing WHO entities and evolving molecular concepts: The Genitourinary Pathology Society (GUPS) update on renal neoplasia.
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
Renal Medullary Carcinoma.
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
Global burden of sickle cell anaemia in children under five, 2010-2050: modelling based on demographics, excess mortality, and interventions.
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
Global epidemiology of sickle haemoglobin in neonates: a contemporary geostatistical model-based map and population estimates.
Piel FB, Patil AP, Howes RE, Nyangiri OA, Gething PW, Dewi M, Temperley WH, Williams TN, Weatherall DJ, Hay SI
Lancet 2013 Jan 12;381(9861):142-51. Epub 2012 Oct 25 doi: 10.1016/S0140-6736(12)61229-X. PMID: 23103089Free PMC Article

Recent systematic reviews

Sickle cell disease in gulf cooperation council countries: a systematic review.
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
Clinical Outcomes Associated With Sickle Cell Trait: A Systematic Review.
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
Renal medullary carcinoma and sickle cell trait: A systematic review.
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
The interaction between sickle cell disease and HIV infection: a systematic review.
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
Malaria chemoprophylaxis in sickle cell disease.
Oniyangi O, Omari AA
Cochrane Database Syst Rev 2003;(3):CD003489. doi: 10.1002/14651858.CD003489. PMID: 12917969

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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      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

    Reviews

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