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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

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
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
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
Porter B, Key NS, Jauk VC, Adam S, Biggio J, Tita A
Am J Perinatol 2014 Oct;31(9):805-9. Epub 2013 Dec 12 doi: 10.1055/s-0033-1361931. PMID: 24338132
Rennels MB, Dunne MG, Grossman NJ, Schwartz AD
Am J Dis Child 1984 Jan;138(1):66-7. doi: 10.1001/archpedi.1984.02140390054016. PMID: 6691315
Alter BP, Friedman S, Hobbins JC, Mahoney MJ, Sherman AS, McSweeney JF, Nathan DG, Schwartz E
N Engl J Med 1976 May 6;294(19):1040-1. doi: 10.1056/NEJM197605062941906. PMID: 3736

Diagnosis

Manthei DM, Harro DM, Keren DF
J Appl Lab Med 2021 Sep 1;6(5):1371-1375. doi: 10.1093/jalm/jfab011. PMID: 33824982
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
Porter B, Key NS, Jauk VC, Adam S, Biggio J, Tita A
Am J Perinatol 2014 Oct;31(9):805-9. Epub 2013 Dec 12 doi: 10.1055/s-0033-1361931. PMID: 24338132
Rennels MB, Dunne MG, Grossman NJ, Schwartz AD
Am J Dis Child 1984 Jan;138(1):66-7. doi: 10.1001/archpedi.1984.02140390054016. PMID: 6691315

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
Lee MT, Licursi M, McMahon DJ
Pediatr Blood Cancer 2015 Apr;62(4):643-7. Epub 2015 Jan 13 doi: 10.1002/pbc.25399. PMID: 25641631
Kattamis A, Lagona E, Orfanou I, Psichou F, Ladis V, Kanavakis E, Metaxotou-Mavrommati A, Kattamis C
Pediatr Hematol Oncol 2004 Jun;21(4):335-42. doi: 10.1080/08880010490440473. PMID: 15205096
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
Lima CS, Arruda VR, Costa FF, Saad ST
Braz J Med Biol Res 1997 Aug;30(8):933-40. doi: 10.1590/s0100-879x1997000800004. PMID: 9361721

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
Porter B, Key NS, Jauk VC, Adam S, Biggio J, Tita A
Am J Perinatol 2014 Oct;31(9):805-9. Epub 2013 Dec 12 doi: 10.1055/s-0033-1361931. PMID: 24338132
Lynch A, Tobias JD
J Pediatr 1995 Apr;126(4):581-2. doi: 10.1016/s0022-3476(95)70353-5. PMID: 7699536

Clinical prediction guides

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
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
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
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
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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