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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

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
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

Bone Marrow Necrosis in Sickle Cell-Beta Thalassemia Patient Mimicking Thrombotic Thrombocytopenic Purpura.
Myers CF, Ipe TS
Ann Clin Lab Sci 2018 Sep;48(5):670-673. PMID: 30373875
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/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
Sickle cell thalassemia, thrombocytosis, and erythrocytosis.
Castro O
South Med J 1981 Mar;74(3):380-1. doi: 10.1097/00007611-198103000-00042. PMID: 7221649
Clinical, hematologic and biosynthetic studies in sickle cell-betao-thalassemia: a comparison with sickle cell anemia.
Steinberg MH, Dreiling BJ
Am J Hematol 1976;1(1):35-44. doi: 10.1002/ajh.2830010105. PMID: 984035

Therapy

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
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
Sickle cell crisis treated by exchange transfusion. Treatment of two patients with heterozygous sickle cell syndrome.
Green M, Hall RJ, Huntsman RG, Lawson A, Pearson TC, Wheeler PC
JAMA 1975 Mar 3;231(9):948-50. PMID: 1173102

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
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
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

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
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

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

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    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

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    Reviews

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    • GTR(Clinical)
      Clinical tests in GTR
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