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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

Sontag MK, Yusuf C, Grosse SD, Edelman S, Miller JI, McKasson S, Kellar-Guenther Y, Gaffney M, Hinton CF, Cuthbert C, Singh S, Ojodu J, Shapira SK
MMWR Morb Mortal Wkly Rep 2020 Sep 11;69(36):1265-1268. doi: 10.15585/mmwr.mm6936a6. PMID: 32915168Free PMC Article
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
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

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
Dehury S, Mohanty PK, Patel S, Meher S, Das K, Purohit P, Sahoo S, Ratha J
Hemoglobin 2021 Nov;45(6):380-386. Epub 2022 Mar 4 doi: 10.1080/03630269.2021.1965618. PMID: 35243949
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
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
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

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
Musaad SM, Chan G, Kyle C
N Z Med J 2020 Oct 9;133(1523):16-28. PMID: 33032300
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
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
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

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
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
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
Koshy M, Chisum D, Burd L, Orlina A, How H
J Clin Apher 1991;6(4):230-3. doi: 10.1002/jca.2920060412. PMID: 1816245
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

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
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
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
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
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

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
De Luna G, Ranque B, Courbebaisse M, Ribeil JA, Khimoud D, Dupeux S, Silvera J, Offredo L, Pouchot J, Arlet JB
Bone 2018 May;110:199-203. Epub 2018 Feb 8 doi: 10.1016/j.bone.2018.02.003. PMID: 29428552
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
Schiliro G, Samperi P, Testa R, Gupta RB, Gu LH, Huisman TH
Am J Hematol 1992 Dec;41(4):264-9. doi: 10.1002/ajh.2830410408. PMID: 1283809
Gonzalez-Redondo JM, Kutlar A, Kutlar F, McKie VC, McKie KM, Baysal E, Huisman TH
Am J Hematol 1991 Sep;38(1):9-14. doi: 10.1002/ajh.2830380103. PMID: 1897518

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