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S-Beta Thalassemia

MedGen UID:
414290
•Concept ID:
C2825560
•
Disease or Syndrome

Definition

A disorder characterized by the body''s inability to synthesize beta-globin chains, leading to the formation of abnormal hemoglobin and anemia. This inherited autosomal recessive blood disorder is caused by germline mutation of the HBB gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVS-Beta Thalassemia

Professional guidelines

PubMed

Demographics and outcomes of hemoglobin genotype in hospitalized patients with COVID-19 and sickle cell disease in the United States.
Ilerhunmwuwa NP, Inyang L, Wasifuddin M, Aiwuyo H, Tahir M, Hakobyan N, Ankah P, Torere BE, Amaechi UM, Rayapureddy AK, Wang JC
Eur J Haematol 2023 Oct;111(4):611-619. Epub 2023 Jul 21 doi: 10.1111/ejh.14054. PMID: 37477175
Neonatal Screening and the Clinical Outcome in Children with Sickle Cell Disease in Central India.
Upadhye DS, Jain DL, Trivedi YL, Nadkarni AH, Ghosh K, Colah RB
PLoS One 2016;11(1):e0147081. Epub 2016 Jan 19 doi: 10.1371/journal.pone.0147081. PMID: 26785407Free PMC Article
Sickle cell anemia--molecular diagnosis and prenatal counseling: SGPGI experience.
Kumar R, Panigrahi I, Dalal A, Agarwal S
Indian J Pediatr 2012 Jan;79(1):68-74. Epub 2011 Jun 29 doi: 10.1007/s12098-011-0510-1. PMID: 21713598

Recent clinical studies

Etiology

Epidemiological and clinical characteristics of 66 Tunisian Sickle cell syndrome patients.
Sahli A, Ouali F, Dabboubi R, Fredj SH, Meddeb N, Mzoughi N, Messaoud T
Afr Health Sci 2023 Sep;23(3):213-222. doi: 10.4314/ahs.v23i3.26. PMID: 38357153Free PMC Article
The effect of mother's β-thalassemia minor on placental histology and neonatal outcomes.
Vafaei H, Karimi S, Akbarzadeh Jahromi M, Asadi N, Kasraeian M
J Matern Fetal Neonatal Med 2022 May;35(10):1907-1914. Epub 2020 Jun 4 doi: 10.1080/14767058.2020.1774540. PMID: 32495664
Receptor Activator of Nuclear Factor κ-Β Ligand/Osteoprotegerin Axis in Adults with Hb S/β-Thalassemia and β-Thalassemia Trait.
Tombak A, Boztepe B, Akbayir S, Dogru G, Sungur MA
Hemoglobin 2020 Sep;44(5):334-337. Epub 2020 Sep 2 doi: 10.1080/03630269.2020.1811116. PMID: 32873083
Hb S/β-Thalassemia in the REDS-III Brazil Sickle Cell Disease Cohort: Clinical, Laboratory and Molecular Characteristics.
Belisário AR, Carneiro-Proietti AB, Sabino EC, Araújo A, Loureiro P, Máximo C, Flor-Park MV, Rodrigues DDOW, Ozahata MC, McClure C, Mota RA, Gomes Moura IC, Custer B, Kelly S; Recipient Epidemiology and Donor Evaluation Study (REDS-III) International Component Brazil
Hemoglobin 2020 Jan;44(1):1-9. Epub 2020 Mar 16 doi: 10.1080/03630269.2020.1731530. PMID: 32172616Free PMC Article
The Spectrum of β-Thalassemia Mutations in a Population from the Brazilian Amazon.
Silva AN, Cardoso GL, Cunha DA, Diniz IG, Santos SE, Andrade GB, Trindade SM, Cardoso Mdo S, Francês LT, Guerreiro JF
Hemoglobin 2016;40(1):20-4. Epub 2015 Sep 15 doi: 10.3109/03630269.2015.1083443. PMID: 26372288

Diagnosis

Transcranial Doppler Velocities among Sickle Cell Disease Patients in Steady State.
Salama K, Rady R, Hashem RH, El-Ghamrawy M
Hemoglobin 2020 Nov;44(6):418-422. Epub 2020 Nov 8 doi: 10.1080/03630269.2020.1843483. PMID: 33164583
A three-way comparison of glycated haemoglobin: are results from the three platforms interchangeable?
Musaad SM, Chan G, Kyle C
N Z Med J 2020 Oct 9;133(1523):16-28. PMID: 33032300
Receptor Activator of Nuclear Factor κ-Β Ligand/Osteoprotegerin Axis in Adults with Hb S/β-Thalassemia and β-Thalassemia Trait.
Tombak A, Boztepe B, Akbayir S, Dogru G, Sungur MA
Hemoglobin 2020 Sep;44(5):334-337. Epub 2020 Sep 2 doi: 10.1080/03630269.2020.1811116. PMID: 32873083
Hb S/β-Thalassemia in the REDS-III Brazil Sickle Cell Disease Cohort: Clinical, Laboratory and Molecular Characteristics.
Belisário AR, Carneiro-Proietti AB, Sabino EC, Araújo A, Loureiro P, Máximo C, Flor-Park MV, Rodrigues DDOW, Ozahata MC, McClure C, Mota RA, Gomes Moura IC, Custer B, Kelly S; Recipient Epidemiology and Donor Evaluation Study (REDS-III) International Component Brazil
Hemoglobin 2020 Jan;44(1):1-9. Epub 2020 Mar 16 doi: 10.1080/03630269.2020.1731530. PMID: 32172616Free PMC Article
Blood rheology in children with the S/β+-thalassemia syndrome.
Renoux C, Joly P, Gauthier A, Pialoux V, Romanet-Faes C, Bertrand Y, Garnier N, Cuzzubbo D, Cannas G, Connes P
Clin Hemorheol Microcirc 2018;69(1-2):207-214. doi: 10.3233/CH-189119. PMID: 29630544

Therapy

Evaluation of pharmacological efficacy and safety of hydroxyurea in sickle cell disease: Study of a pediatric cohort from Chhattisgarh, India.
Lad H, Naskar S, Punyasri Pasupuleti SKDB, Nahrel R, Sihare P, Chandak GR, Patra PK
Pediatr Hematol Oncol 2023 May;40(4):395-406. Epub 2022 Oct 13 doi: 10.1080/08880018.2022.2126042. PMID: 36226857
Effect of Poloxamer 188 vs Placebo on Painful Vaso-Occlusive Episodes in Children and Adults With Sickle Cell Disease: A Randomized Clinical Trial.
Casella JF, Barton BA, Kanter J, Black LV, Majumdar S, Inati A, Wali Y, Drachtman RA, Abboud MR, Kilinc Y, Fuh BR, Al-Khabori MK, Takemoto CM, Salman E, Sarnaik SA, Shah N, Morris CR, Keates-Baleeiro J, Raj A, Alvarez OA, Hsu LL, Thompson AA, Sisler IY, Pace BS, Noronha SA, Lasky JL 3rd, de Julian EC, Godder K, Thornburg CD, Kamberos NL, Nuss R, Marsh AM, Owen WC, Schaefer A, Tebbi CK, Chantrain CF, Cohen DE, Karakas Z, Piccone CM, George A, Fixler JM, Singleton TC, Moulton T, Quinn CT, de Castro Lobo CL, Almomen AM, Goyal-Khemka M, Maes P, Emanuele M, Gorney RT, Padgett CS, Parsley E, Kronsberg SS, Kato GJ, Gladwin MT
JAMA 2021 Apr 20;325(15):1513-1523. doi: 10.1001/jama.2021.3414. PMID: 33877274Free PMC Article
Profile of Reproductive Issues Associated with Different Sickle Cell Disease Genotypes.
Carvalho FA, Souza AI, Ferreira ALCG, Neto SDS, Oliveira ACPL, Gomes MLRP, Costa MFH
Rev Bras Ginecol Obstet 2017 Aug;39(8):397-402. Epub 2017 Jul 6 doi: 10.1055/s-0037-1604179. PMID: 28683515Free PMC Article
Clinical and hematological responses to hydroxyurea in Sicilian patients with Hb S/beta-thalassemia.
Rigano P, Rodgers GP, Renda D, Renda MC, Aquino A, Maggio A
Hemoglobin 2001 Feb;25(1):9-17. doi: 10.1081/hem-100103065. PMID: 11300353
Beta-cluster haplotypes, alpha-gene status, and hematological data from SS, SC, and S-beta-thalassemia patients in southern California.
Schroeder WA, Powars DR, Kay LM, Chan LS, Huynh V, Shelton JB, Shelton JR
Hemoglobin 1989;13(4):325-53. doi: 10.3109/03630268909003397. PMID: 2473969

Prognosis

The prevalence of sickling abnormality in Oman: A review of relevant publications.
Al-Mashaikhi N, Al-Rawas A, Wali Y, Soliman A, Khater D
Acta Biomed 2022 Aug 31;93(4):e2022289. doi: 10.23750/abm.v93i4.13336. PMID: 36043956Free PMC Article
Hb S/β-Thalassemia in the REDS-III Brazil Sickle Cell Disease Cohort: Clinical, Laboratory and Molecular Characteristics.
Belisário AR, Carneiro-Proietti AB, Sabino EC, Araújo A, Loureiro P, Máximo C, Flor-Park MV, Rodrigues DDOW, Ozahata MC, McClure C, Mota RA, Gomes Moura IC, Custer B, Kelly S; Recipient Epidemiology and Donor Evaluation Study (REDS-III) International Component Brazil
Hemoglobin 2020 Jan;44(1):1-9. Epub 2020 Mar 16 doi: 10.1080/03630269.2020.1731530. PMID: 32172616Free PMC Article
Effect of Assorted Globin Haplotypes and α-Thalassemia on the Clinical Heterogeneity of Hb S-β-Thalassemia.
Dash PM, Sahu PK, Patel S, Mashon RS, Kharat KR, Mukherjee MB
Hemoglobin 2018 Jul;42(4):236-242. Epub 2018 Nov 29 doi: 10.1080/03630269.2018.1536666. PMID: 30486691
Hb S-β-thalassemia: molecular, hematological and clinical comparisons.
Serjeant GR, Serjeant BE, Fraser RA, Hambleton IR, Higgs DR, Kulozik AE, Donaldson A
Hemoglobin 2011;35(1):1-12. doi: 10.3109/03630269.2010.546306. PMID: 21250876
Beta-thalassemia, HB S-beta-thalassemia and sickle cell anemia among Tunisians.
Fattoum S, Guemira F, Oner C, Oner R, Li HW, Kutlar F, Huisman TH
Hemoglobin 1991;15(1-2):11-21. doi: 10.3109/03630269109072481. PMID: 1917531

Clinical prediction guides

Epidemiological and clinical characteristics of 66 Tunisian Sickle cell syndrome patients.
Sahli A, Ouali F, Dabboubi R, Fredj SH, Meddeb N, Mzoughi N, Messaoud T
Afr Health Sci 2023 Sep;23(3):213-222. doi: 10.4314/ahs.v23i3.26. PMID: 38357153Free PMC Article
Evaluation of pharmacological efficacy and safety of hydroxyurea in sickle cell disease: Study of a pediatric cohort from Chhattisgarh, India.
Lad H, Naskar S, Punyasri Pasupuleti SKDB, Nahrel R, Sihare P, Chandak GR, Patra PK
Pediatr Hematol Oncol 2023 May;40(4):395-406. Epub 2022 Oct 13 doi: 10.1080/08880018.2022.2126042. PMID: 36226857
Receptor Activator of Nuclear Factor κ-Β Ligand/Osteoprotegerin Axis in Adults with Hb S/β-Thalassemia and β-Thalassemia Trait.
Tombak A, Boztepe B, Akbayir S, Dogru G, Sungur MA
Hemoglobin 2020 Sep;44(5):334-337. Epub 2020 Sep 2 doi: 10.1080/03630269.2020.1811116. PMID: 32873083
Clinical and hematological responses to hydroxyurea in Sicilian patients with Hb S/beta-thalassemia.
Rigano P, Rodgers GP, Renda D, Renda MC, Aquino A, Maggio A
Hemoglobin 2001 Feb;25(1):9-17. doi: 10.1081/hem-100103065. PMID: 11300353
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

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