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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]

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
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
Antithrombin III concentrate for treatment of chronic leg ulcers in sickle cell-beta thalassemia: a pilot study.
Cacciola E, Giustolisi R, Musso R, Longo A, Cacciola E
Ann Intern Med 1989 Sep 15;111(6):534-6. doi: 10.7326/0003-4819-111-6-534. PMID: 2774375

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

Proliferative Sickle Cell Retinopathy: Outcomes of Vitreoretinal Surgery.
Rohowetz LJ, Panneerselvam S, Williams BK Jr, Smiddy WE, Berrocal AM, Townsend JH, Gayer S, Palte HD, Flynn HW Jr; Proliferative Sickle Cell Retinopathy Study Group
Ophthalmol Retina 2024 Aug;8(8):832-837. Epub 2024 Feb 1 doi: 10.1016/j.oret.2024.01.023. PMID: 38302055Free PMC Article
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
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
Management of sickle cell/beta thalassemia patient with severe odontogenic infection.
Ziccardi VB, Feretti A, Schneider W
N Y State Dent J 1996 Oct;62(8):28-32. PMID: 8909043

Diagnosis

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
Sanfilippo syndrome, glucose-6-phosphate dehydrogenase deficiency and sickle cell/β+ thalassemia in a child: the burden of consanguinity.
Mohamed S
Am J Med Genet A 2014 Jan;164A(1):267-9. Epub 2013 Sep 12 doi: 10.1002/ajmg.a.36180. PMID: 24030929
AIRP best cases in radiologic-pathologic correlation: cerebral fat embolism syndrome in sickle cell β-thalassemia.
Gibbs WN, Opatowsky MJ, Burton EC
Radiographics 2012 Sep-Oct;32(5):1301-6. doi: 10.1148/rg.325115055. PMID: 22977019
Multiorgan failure and bone marrow necrosis in three adults with sickle cell-β+ -thalassemia.
Adamski J, Hanna CA, Reddy VB, Litovsky SH, Evans CA, Marques MB
Am J Hematol 2012 Jun;87(6):621-4. Epub 2012 Feb 28 doi: 10.1002/ajh.23117. PMID: 22374850
Sickle cell-beta-thalassemia: a common phenocopy of sickle cell anemia.
Steinberg MH, Adams JG, Hendrix R
J Miss State Med Assoc 1982 Nov;23(11):319-21. PMID: 7175930

Therapy

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
Fusobacterium nucleatum prosthetic hip infection in an adult with sickle cell-beta thalassemia.
Verma K, McNabb PC, Kurtz W, Green J, Trabue CH
Infection 2012 Jun;40(3):335-7. Epub 2011 Oct 15 doi: 10.1007/s15010-011-0197-2. PMID: 22002730
Pulmonary hypertension in patients with sickle cell/beta thalassemia: incidence and correlation with serum N-terminal pro-brain natriuretic peptide concentrations.
Voskaridou E, Tsetsos G, Tsoutsias A, Spyropoulou E, Christoulas D, Terpos E
Haematologica 2007 Jun;92(6):738-43. doi: 10.3324/haematol.11136. PMID: 17550845
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
Antithrombin III concentrate for treatment of chronic leg ulcers in sickle cell-beta thalassemia: a pilot study.
Cacciola E, Giustolisi R, Musso R, Longo A, Cacciola E
Ann Intern Med 1989 Sep 15;111(6):534-6. doi: 10.7326/0003-4819-111-6-534. PMID: 2774375

Prognosis

A Fatal Case of Necrotizing Pancreatitis in Sickle Cell Beta Thalassemia Zero.
Turnbull TL, Houston PM, Batalis NI
Am Surg 2018 Sep 1;84(9):e401-e402. PMID: 30269722
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
AIRP best cases in radiologic-pathologic correlation: cerebral fat embolism syndrome in sickle cell β-thalassemia.
Gibbs WN, Opatowsky MJ, Burton EC
Radiographics 2012 Sep-Oct;32(5):1301-6. doi: 10.1148/rg.325115055. PMID: 22977019
Management of sickle cell/beta thalassemia patient with severe odontogenic infection.
Ziccardi VB, Feretti A, Schneider W
N Y State Dent J 1996 Oct;62(8):28-32. PMID: 8909043
Sickle cell beta-thalassemia and pregnancy.
Laros RK Jr, Kalstone CE
Obstet Gynecol 1971 Jan;37(1):67-71. PMID: 5538919

Clinical prediction guides

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
Pulmonary hypertension in patients with sickle cell/beta thalassemia: incidence and correlation with serum N-terminal pro-brain natriuretic peptide concentrations.
Voskaridou E, Tsetsos G, Tsoutsias A, Spyropoulou E, Christoulas D, Terpos E
Haematologica 2007 Jun;92(6):738-43. doi: 10.3324/haematol.11136. PMID: 17550845
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
THE FIRST OBSERVATION OF HOMOZYGOUS HEMOGLOBIN S-ALPHA THALASSEMIA DISEASE AND TWO TYPES OF SICKLE CELL THALASSEMIA DISEASE: (A) SICKLE CELL-ALPHA THALASSEMIA DISEASE, (B) SICKLE CELL-BETA THALASSEMIA DISEASE.
AKSOY M
Blood 1963 Dec;22:757-69. PMID: 14084634

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

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    Clinical resources

    Practice guidelines

    • PubMed
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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
      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
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      Related literature resources in PubMed

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