U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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]

Professional guidelines

PubMed

Clinical validity and utility of preconception expanded carrier screening for the management of reproductive genetic risk in IVF and general population.
Capalbo A, Fabiani M, Caroselli S, Poli M, Girardi L, Patassini C, Favero F, Cimadomo D, Vaiarelli A, Simon C, Rienzi LF, Ubaldi FM
Hum Reprod 2021 Jun 18;36(7):2050-2061. doi: 10.1093/humrep/deab087. PMID: 34021342
Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening.
Kunz JB, Awad S, Happich M, Muckenthaler L, Lindner M, Gramer G, Okun JG, Hoffmann GF, Bruckner T, Muckenthaler MU, Kulozik AE
Ann Hematol 2016 Feb;95(3):397-402. Epub 2015 Dec 12 doi: 10.1007/s00277-015-2573-y. PMID: 26658910
Encephaloduroarteriosynangiosis and encephalomyoarteriosynangiosis for treatment of moyamoya syndrome in pediatric patients with sickle cell disease.
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

Curated

ACMG ACT, Hemoglobin S/Beta Plus Thalassemia , 2023

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

American College of Medical Genetics and Genomics, Transition to Adult Health Care ACT Sheet, Sickle Cell Disease, 2012

American College of Medical Genetics ACT SHEET, Hemoglobin S/Beta plus Thalassemia, 2010

American College of Medical Genetics and Genomics, Algorithm, Hb S Screening, 2009

Recent clinical studies

Etiology

Sickle cell/β-thalassemia: Comparison of Sβ(0) and Sβ(+) Brazilian patients followed at a single institution.
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
Sickle Cell Disease in Central India: A Potentially Severe Syndrome.
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
Cerebrovascular events in sickle cell-beta thalassemia treated with hydroxyurea: a single center prospective survey in adult Italians.
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
Osteoporosis and osteosclerosis in sickle cell/beta-thalassemia: the role of the RANKL/osteoprotegerin axis.
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
Renal abnormalities in patients with sickle cell-beta thalassemia.
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

Fat Embolism Syndrome in Sickle Cell β-Thalassemia Patient With Osteonecrosis: An Uncommon Presentation in a Young Adult.
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
Splenic sequestration in the adult: cross sectional imaging appearance of an uncommon diagnosis.
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
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
Early markers of renal dysfunction in patients with sickle cell/beta-thalassemia.
Voskaridou E, Terpos E, Michail S, Hantzi E, Anagnostopoulos A, Margeli A, Simirloglou D, Loukopoulos D, Papassotiriou I
Kidney Int 2006 Jun;69(11):2037-42. doi: 10.1038/sj.ki.5000248. PMID: 16501491
Sickle cell/beta-thalassemia in North Jordan.
Bashir N, Barkawi M, Sharif L
J Trop Pediatr 1992 Aug;38(4):196-8. doi: 10.1093/tropej/38.4.196. PMID: 1382139

Therapy

The role of hydroxyurea to prevent silent stroke in sickle cell disease: Systematic review and meta-analysis.
Hasson C, Veling L, Rico J, Mhaskar R
Medicine (Baltimore) 2019 Dec;98(51):e18225. doi: 10.1097/MD.0000000000018225. PMID: 31860969Free PMC Article
Activin-A is elevated in patients with thalassemia major and double heterozygous sickle cell/beta-thalassemia and correlates with markers of hemolysis and bone mineral density.
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
Encephaloduroarteriosynangiosis and encephalomyoarteriosynangiosis for treatment of moyamoya syndrome in pediatric patients with sickle cell disease.
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
Cerebrovascular events in sickle cell-beta thalassemia treated with hydroxyurea: a single center prospective survey in adult Italians.
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
Hypercoagulability in sickle cell disease: a curious paradox.
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

Sickle cell/β-thalassemia: Comparison of Sβ(0) and Sβ(+) Brazilian patients followed at a single institution.
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
Cerebrovascular events in sickle cell-beta thalassemia treated with hydroxyurea: a single center prospective survey in adult Italians.
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
Sickle cell/beta-thalassemia in North Jordan.
Bashir N, Barkawi M, Sharif L
J Trop Pediatr 1992 Aug;38(4):196-8. doi: 10.1093/tropej/38.4.196. PMID: 1382139
Pregnancy and sickle cell hemoglobinopathies: results with and without prophylactic transfusions.
Cunningham FG, Pritchard JA, Mason R
Obstet Gynecol 1983 Oct;62(4):419-24. PMID: 6888818
Sickle cell beta-thalassemia and pregnancy.
Laros RK Jr, Kalstone CE
Obstet Gynecol 1971 Jan;37(1):67-71. PMID: 5538919

Clinical prediction guides

The role of hydroxyurea to prevent silent stroke in sickle cell disease: Systematic review and meta-analysis.
Hasson C, Veling L, Rico J, Mhaskar R
Medicine (Baltimore) 2019 Dec;98(51):e18225. doi: 10.1097/MD.0000000000018225. PMID: 31860969Free PMC Article
Activin-A is elevated in patients with thalassemia major and double heterozygous sickle cell/beta-thalassemia and correlates with markers of hemolysis and bone mineral density.
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
Sickle cell/β-thalassemia: Comparison of Sβ(0) and Sβ(+) Brazilian patients followed at a single institution.
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
Reduction of the clinical severity of sickle cell/beta-thalassemia with hydroxyurea: the experience of a single center in Greece.
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
Sickle cell anemia, sickle cell beta-thalassemia, and thalassemia major in Albania: characterization of mutations.
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

The role of hydroxyurea to prevent silent stroke in sickle cell disease: Systematic review and meta-analysis.
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
      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
      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

    Reviews

    Related information

    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...