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Sickle cell-beta-thalassemia

MedGen UID:
452211
Concept ID:
C0221019
Disease or Syndrome
Synonyms: Hb S beta-thalassemia; Hemoglobin S Beta-Thalassemia; Hemoglobin sickle-beta thalassemia; Sickle beta thalassemia
SNOMED CT: Sickle cell-beta-thalassemia (127041004); Double heterozygous for Hb S and beta thalassemia (127041004); Hemoglobin S/beta thalassemia (127041004); Thalassemia with hemoglobin S disease (127041004)

Definition

A heterozygous state in which a person has a hemoglobin S allele along with a beta-thalassemia allele. The severity of the condition is determined to a large extent by the quantity of normal hemoglobin produced by the beta-thalassemia gene. [from NCI]

Recent clinical studies

Etiology

Benites BD, Bastos SO, Baldanzi G, Dos Santos AO, Ramos CD, Costa FF, Gilli SC, Saad ST
Hematology 2016 Dec;21(10):623-629. Epub 2016 May 28 doi: 10.1080/10245332.2016.1187843. PMID: 27237196
Jain D, Warthe V, Dayama P, Sarate D, Colah R, Mehta P, Serjeant G
Indian J Pediatr 2016 Oct;83(10):1071-6. Epub 2016 Apr 7 doi: 10.1007/s12098-016-2081-7. PMID: 27053181
Rigano P, Pecoraro A, Calvaruso G, Steinberg MH, Iannello S, Maggio A
Am J Hematol 2013 Nov;88(11):E261-4. Epub 2013 Aug 30 doi: 10.1002/ajh.23531. PMID: 23828131
Voskaridou E, Stoupa E, Antoniadou L, Premetis E, Konstantopoulos K, Papassotiriou I, Terpos E
Haematologica 2006 Jun;91(6):813-6. Epub 2006 May 16 PMID: 16704959
Katopodis KP, Elisaf MS, Pappas HA, Theodorou JC, Milionis HJ, Bourantas KL, Siamopoulos KC
J Nephrol 1997 May-Jun;10(3):163-7. PMID: 9238625

Diagnosis

Sangani V, Pokal M, Balla M, Merugu GP, Khokher W, Gayam V, Konala VM
J Investig Med High Impact Case Rep 2021 Jan-Dec;9:23247096211012266. doi: 10.1177/23247096211012266. PMID: 34008428Free PMC Article
Esterson YB, Sheth S, Kawamoto S
Clin Imaging 2021 Jan;69:369-373. Epub 2020 Oct 12 doi: 10.1016/j.clinimag.2020.10.016. PMID: 33070084
Kotila TR
Acta Haematol 2016;136(3):147-51. Epub 2016 Jul 16 doi: 10.1159/000446526. PMID: 27423233
Bashir N, Barkawi M, Sharif L
J Trop Pediatr 1992 Aug;38(4):196-8. doi: 10.1093/tropej/38.4.196. PMID: 1382139
Castro O
South Med J 1981 Mar;74(3):380-1. doi: 10.1097/00007611-198103000-00042. PMID: 7221649

Therapy

Hasson C, Veling L, Rico J, Mhaskar R
Medicine (Baltimore) 2019 Dec;98(51):e18225. doi: 10.1097/MD.0000000000018225. PMID: 31860969Free PMC Article
Voskaridou E, Ntanasis-Stathopoulos I, Christoulas D, Dimopoulou M, Komninaka V, Repa K, Papatheodorou A, Terpos E
Ann Hematol 2019 Jul;98(7):1583-1592. Epub 2019 Apr 30 doi: 10.1007/s00277-019-03695-x. PMID: 31041514
Griessenauer CJ, Lebensburger JD, Chua MH, Fisher WS 3rd, Hilliard L, Bemrich-Stolz CJ, Howard TH, Johnston JM
J Neurosurg Pediatr 2015 Jul;16(1):64-73. Epub 2015 Apr 3 doi: 10.3171/2014.12.PEDS14522. PMID: 25837886
Rigano P, Pecoraro A, Calvaruso G, Steinberg MH, Iannello S, Maggio A
Am J Hematol 2013 Nov;88(11):E261-4. Epub 2013 Aug 30 doi: 10.1002/ajh.23531. PMID: 23828131
Ataga KI, Orringer EP
Am J Med 2003 Dec 15;115(9):721-8. doi: 10.1016/j.amjmed.2003.07.011. PMID: 14693325

Prognosis

Sangani V, Pokal M, Balla M, Merugu GP, Khokher W, Gayam V, Konala VM
J Investig Med High Impact Case Rep 2021 Jan-Dec;9:23247096211012266. doi: 10.1177/23247096211012266. PMID: 34008428Free PMC Article
Benites BD, Bastos SO, Baldanzi G, Dos Santos AO, Ramos CD, Costa FF, Gilli SC, Saad ST
Hematology 2016 Dec;21(10):623-629. Epub 2016 May 28 doi: 10.1080/10245332.2016.1187843. PMID: 27237196
Bashir N, Barkawi M, Sharif L
J Trop Pediatr 1992 Aug;38(4):196-8. doi: 10.1093/tropej/38.4.196. PMID: 1382139
Cunningham FG, Pritchard JA, Mason R
Obstet Gynecol 1983 Oct;62(4):419-24. PMID: 6888818
Laros RK Jr, Kalstone CE
Obstet Gynecol 1971 Jan;37(1):67-71. PMID: 5538919

Clinical prediction guides

Hasson C, Veling L, Rico J, Mhaskar R
Medicine (Baltimore) 2019 Dec;98(51):e18225. doi: 10.1097/MD.0000000000018225. PMID: 31860969Free PMC Article
Voskaridou E, Ntanasis-Stathopoulos I, Christoulas D, Dimopoulou M, Komninaka V, Repa K, Papatheodorou A, Terpos E
Ann Hematol 2019 Jul;98(7):1583-1592. Epub 2019 Apr 30 doi: 10.1007/s00277-019-03695-x. PMID: 31041514
Benites BD, Bastos SO, Baldanzi G, Dos Santos AO, Ramos CD, Costa FF, Gilli SC, Saad ST
Hematology 2016 Dec;21(10):623-629. Epub 2016 May 28 doi: 10.1080/10245332.2016.1187843. PMID: 27237196
Loukopoulos D, Voskaridou E, Kalotychou V, Schina M, Loutradi A, Theodoropoulos I
Blood Cells Mol Dis 2000 Oct;26(5):453-66. doi: 10.1006/bcmd.2000.0328. PMID: 11112383
Boletini E, Svobodova M, Divoky V, Baysal E, Cürük MA, Dimovski AJ, Liang R, Adekile AD, Huisman TH
Hum Genet 1994 Feb;93(2):182-7. doi: 10.1007/BF00210607. PMID: 8112743

Recent systematic reviews

Hasson C, Veling L, Rico J, Mhaskar R
Medicine (Baltimore) 2019 Dec;98(51):e18225. doi: 10.1097/MD.0000000000018225. PMID: 31860969Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
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    • 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
      ACMG ACT, Hemoglobin S/Beta Plus Thalassemia , 2023
    • ACMG Algorithm, 2023
      ACMG Algorithm, FSA: Hemoglobin HbS/B+ Screening Result, 2023
    • ACMG ACT, 2012
      American College of Medical Genetics and Genomics, Transition to Adult Health Care ACT Sheet, Sickle Cell Disease, 2012
    • ACMG ACT Sheet, 2010
      American College of Medical Genetics ACT SHEET, Hemoglobin S/Beta plus Thalassemia, 2010
    • ACMG Algorithm, 2009
      American College of Medical Genetics and Genomics, Algorithm, Hb S Screening, 2009

    Consumer resources

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