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Beta-thalassemia and related diseases

MedGen UID:
1826095
Concept ID:
C5680748
Disease or Syndrome
Synonym: beta-thalassemia and related diseases
 
Monarch Initiative: MONDO:0017145
Orphanet: ORPHA275749

Term Hierarchy

Professional guidelines

PubMed

Bou-Fakhredin R, Motta I, Cappellini MD, Taher AT
Hematol Oncol Clin North Am 2023 Apr;37(2):365-378. doi: 10.1016/j.hoc.2022.12.007. PMID: 36907609
Suali L, Mohammad Salih FA, Ibrahim MY, Jeffree MSB, Thomas FM, Siew Moy F, Shook Fe Y, Suali E, Sudi S, Sunggip C
Hemoglobin 2022 Nov;46(6):317-324. Epub 2023 Feb 23 doi: 10.1080/03630269.2023.2169154. PMID: 36815306
Fucharoen S, Weatherall DJ
Hematol Oncol Clin North Am 2016 Apr;30(2):359-71. doi: 10.1016/j.hoc.2015.12.001. PMID: 27040959

Recent clinical studies

Etiology

Fejzo M, Rocha N, Cimino I, Lockhart SM, Petry CJ, Kay RG, Burling K, Barker P, George AL, Yasara N, Premawardhena A, Gong S, Cook E, Rimmington D, Rainbow K, Withers DJ, Cortessis V, Mullin PM, MacGibbon KW, Jin E, Kam A, Campbell A, Polasek O, Tzoneva G, Gribble FM, Yeo GSH, Lam BYH, Saudek V, Hughes IA, Ong KK, Perry JRB, Sutton Cole A, Baumgarten M, Welsh P, Sattar N, Smith GCS, Charnock-Jones DS, Coll AP, Meek CL, Mettananda S, Hayward C, Mancuso N, O'Rahilly S
Nature 2024 Jan;625(7996):760-767. Epub 2023 Dec 13 doi: 10.1038/s41586-023-06921-9. PMID: 38092039Free PMC Article
Segura EER, Ayoub PG, Hart KL, Kohn DB
Viruses 2023 Mar 9;15(3) doi: 10.3390/v15030713. PMID: 36992422Free PMC Article
Thompson AA, Walters MC, Kwiatkowski J, Rasko JEJ, Ribeil JA, Hongeng S, Magrin E, Schiller GJ, Payen E, Semeraro M, Moshous D, Lefrere F, Puy H, Bourget P, Magnani A, Caccavelli L, Diana JS, Suarez F, Monpoux F, Brousse V, Poirot C, Brouzes C, Meritet JF, Pondarré C, Beuzard Y, Chrétien S, Lefebvre T, Teachey DT, Anurathapan U, Ho PJ, von Kalle C, Kletzel M, Vichinsky E, Soni S, Veres G, Negre O, Ross RW, Davidson D, Petrusich A, Sandler L, Asmal M, Hermine O, De Montalembert M, Hacein-Bey-Abina S, Blanche S, Leboulch P, Cavazzana M
N Engl J Med 2018 Apr 19;378(16):1479-1493. doi: 10.1056/NEJMoa1705342. PMID: 29669226
Galanello R, Origa R
Orphanet J Rare Dis 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. PMID: 20492708Free PMC Article
Cao A, Galanello R
Genet Med 2010 Feb;12(2):61-76. doi: 10.1097/GIM.0b013e3181cd68ed. PMID: 20098328

Diagnosis

Fejzo M, Rocha N, Cimino I, Lockhart SM, Petry CJ, Kay RG, Burling K, Barker P, George AL, Yasara N, Premawardhena A, Gong S, Cook E, Rimmington D, Rainbow K, Withers DJ, Cortessis V, Mullin PM, MacGibbon KW, Jin E, Kam A, Campbell A, Polasek O, Tzoneva G, Gribble FM, Yeo GSH, Lam BYH, Saudek V, Hughes IA, Ong KK, Perry JRB, Sutton Cole A, Baumgarten M, Welsh P, Sattar N, Smith GCS, Charnock-Jones DS, Coll AP, Meek CL, Mettananda S, Hayward C, Mancuso N, O'Rahilly S
Nature 2024 Jan;625(7996):760-767. Epub 2023 Dec 13 doi: 10.1038/s41586-023-06921-9. PMID: 38092039Free PMC Article
Saliba AN, Musallam KM, Taher AT
Blood 2023 Sep 14;142(11):949-960. doi: 10.1182/blood.2023020683. PMID: 37478396Free PMC Article
Origa R
Genet Med 2017 Jun;19(6):609-619. Epub 2016 Nov 3 doi: 10.1038/gim.2016.173. PMID: 27811859
Galanello R, Origa R
Orphanet J Rare Dis 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. PMID: 20492708Free PMC Article
Cao A, Galanello R
Genet Med 2010 Feb;12(2):61-76. doi: 10.1097/GIM.0b013e3181cd68ed. PMID: 20098328

Therapy

Saliba AN, Musallam KM, Taher AT
Blood 2023 Sep 14;142(11):949-960. doi: 10.1182/blood.2023020683. PMID: 37478396Free PMC Article
Magrin E, Semeraro M, Hebert N, Joseph L, Magnani A, Chalumeau A, Gabrion A, Roudaut C, Marouene J, Lefrere F, Diana JS, Denis A, Neven B, Funck-Brentano I, Negre O, Renolleau S, Brousse V, Kiger L, Touzot F, Poirot C, Bourget P, El Nemer W, Blanche S, Tréluyer JM, Asmal M, Walls C, Beuzard Y, Schmidt M, Hacein-Bey-Abina S, Asnafi V, Guichard I, Poirée M, Monpoux F, Touraine P, Brouzes C, de Montalembert M, Payen E, Six E, Ribeil JA, Miccio A, Bartolucci P, Leboulch P, Cavazzana M
Nat Med 2022 Jan;28(1):81-88. Epub 2022 Jan 24 doi: 10.1038/s41591-021-01650-w. PMID: 35075288
Eapen M, Brazauskas R, Walters MC, Bernaudin F, Bo-Subait K, Fitzhugh CD, Hankins JS, Kanter J, Meerpohl JJ, Bolaños-Meade J, Panepinto JA, Rondelli D, Shenoy S, Williamson J, Woolford TL, Gluckman E, Wagner JE, Tisdale JF
Lancet Haematol 2019 Nov;6(11):e585-e596. Epub 2019 Sep 5 doi: 10.1016/S2352-3026(19)30154-1. PMID: 31495699Free PMC Article
Niihara Y, Miller ST, Kanter J, Lanzkron S, Smith WR, Hsu LL, Gordeuk VR, Viswanathan K, Sarnaik S, Osunkwo I, Guillaume E, Sadanandan S, Sieger L, Lasky JL, Panosyan EH, Blake OA, New TN, Bellevue R, Tran LT, Razon RL, Stark CW, Neumayr LD, Vichinsky EP; Investigators of the Phase 3 Trial of l-Glutamine in Sickle Cell Disease
N Engl J Med 2018 Jul 19;379(3):226-235. doi: 10.1056/NEJMoa1715971. PMID: 30021096
Thompson AA, Walters MC, Kwiatkowski J, Rasko JEJ, Ribeil JA, Hongeng S, Magrin E, Schiller GJ, Payen E, Semeraro M, Moshous D, Lefrere F, Puy H, Bourget P, Magnani A, Caccavelli L, Diana JS, Suarez F, Monpoux F, Brousse V, Poirot C, Brouzes C, Meritet JF, Pondarré C, Beuzard Y, Chrétien S, Lefebvre T, Teachey DT, Anurathapan U, Ho PJ, von Kalle C, Kletzel M, Vichinsky E, Soni S, Veres G, Negre O, Ross RW, Davidson D, Petrusich A, Sandler L, Asmal M, Hermine O, De Montalembert M, Hacein-Bey-Abina S, Blanche S, Leboulch P, Cavazzana M
N Engl J Med 2018 Apr 19;378(16):1479-1493. doi: 10.1056/NEJMoa1705342. PMID: 29669226

Prognosis

Wang F, Ling L, Yu D
Am J Med Sci 2021 Jul;362(1):5-12. Epub 2021 Feb 16 doi: 10.1016/j.amjms.2021.02.011. PMID: 33600783
Eapen M, Brazauskas R, Walters MC, Bernaudin F, Bo-Subait K, Fitzhugh CD, Hankins JS, Kanter J, Meerpohl JJ, Bolaños-Meade J, Panepinto JA, Rondelli D, Shenoy S, Williamson J, Woolford TL, Gluckman E, Wagner JE, Tisdale JF
Lancet Haematol 2019 Nov;6(11):e585-e596. Epub 2019 Sep 5 doi: 10.1016/S2352-3026(19)30154-1. PMID: 31495699Free PMC Article
Venugopal A, Chandran M, Eruppakotte N, Kizhakkillach S, Breezevilla SC, Vellingiri B
Mutat Res Rev Mutat Res 2018 Apr-Jun;776:23-31. Epub 2018 Mar 17 doi: 10.1016/j.mrrev.2018.03.003. PMID: 29807575
Goonasekera HW, Paththinige CS, Dissanayake VHW
Annu Rev Genomics Hum Genet 2018 Aug 31;19:355-380. Epub 2018 May 11 doi: 10.1146/annurev-genom-091416-035451. PMID: 29751732
Galanello R, Origa R
Orphanet J Rare Dis 2010 May 21;5:11. doi: 10.1186/1750-1172-5-11. PMID: 20492708Free PMC Article

Clinical prediction guides

Magrin E, Semeraro M, Hebert N, Joseph L, Magnani A, Chalumeau A, Gabrion A, Roudaut C, Marouene J, Lefrere F, Diana JS, Denis A, Neven B, Funck-Brentano I, Negre O, Renolleau S, Brousse V, Kiger L, Touzot F, Poirot C, Bourget P, El Nemer W, Blanche S, Tréluyer JM, Asmal M, Walls C, Beuzard Y, Schmidt M, Hacein-Bey-Abina S, Asnafi V, Guichard I, Poirée M, Monpoux F, Touraine P, Brouzes C, de Montalembert M, Payen E, Six E, Ribeil JA, Miccio A, Bartolucci P, Leboulch P, Cavazzana M
Nat Med 2022 Jan;28(1):81-88. Epub 2022 Jan 24 doi: 10.1038/s41591-021-01650-w. PMID: 35075288
Tanhehco YC
Transfus Apher Sci 2021 Feb;60(1):103061. Epub 2021 Jan 10 doi: 10.1016/j.transci.2021.103061. PMID: 33461919
Zeng J, Wu Y, Ren C, Bonanno J, Shen AH, Shea D, Gehrke JM, Clement K, Luk K, Yao Q, Kim R, Wolfe SA, Manis JP, Pinello L, Joung JK, Bauer DE
Nat Med 2020 Apr;26(4):535-541. Epub 2020 Mar 16 doi: 10.1038/s41591-020-0790-y. PMID: 32284612Free PMC Article
Piché J, Van Vliet PP, Pucéat M, Andelfinger G
Cell Cycle 2019 Nov;18(21):2828-2848. Epub 2019 Sep 13 doi: 10.1080/15384101.2019.1658476. PMID: 31516082Free PMC Article
Thompson AA, Walters MC, Kwiatkowski J, Rasko JEJ, Ribeil JA, Hongeng S, Magrin E, Schiller GJ, Payen E, Semeraro M, Moshous D, Lefrere F, Puy H, Bourget P, Magnani A, Caccavelli L, Diana JS, Suarez F, Monpoux F, Brousse V, Poirot C, Brouzes C, Meritet JF, Pondarré C, Beuzard Y, Chrétien S, Lefebvre T, Teachey DT, Anurathapan U, Ho PJ, von Kalle C, Kletzel M, Vichinsky E, Soni S, Veres G, Negre O, Ross RW, Davidson D, Petrusich A, Sandler L, Asmal M, Hermine O, De Montalembert M, Hacein-Bey-Abina S, Blanche S, Leboulch P, Cavazzana M
N Engl J Med 2018 Apr 19;378(16):1479-1493. doi: 10.1056/NEJMoa1705342. PMID: 29669226

Recent systematic reviews

Bhardwaj A, Swe KMM, Sinha NK
Cochrane Database Syst Rev 2023 May 9;5(5):CD010429. doi: 10.1002/14651858.CD010429.pub3. PMID: 37159055Free PMC Article
Arab-Zozani M, Kheyrandish S, Rastgar A, Miri-Moghaddam E
Ann Glob Health 2021 Jun 8;87(1):48. doi: 10.5334/aogh.3184. PMID: 34164261Free PMC Article
Manolopoulos PP, Lavranos G, Mamais I, Angouridis A, Giannakou K, Johnson EO
Osteoporos Int 2021 Jun;32(6):1031-1040. Epub 2021 Jan 9 doi: 10.1007/s00198-021-05821-w. PMID: 33423084
Zafari M, Rad MTS, Mohseni F, Nikbakht N
Hemoglobin 2021 Jan;45(1):1-4. Epub 2020 Dec 14 doi: 10.1080/03630269.2020.1857266. PMID: 33317358
Liaska A, Petrou P, Georgakopoulos CD, Diamanti R, Papaconstantinou D, Kanakis MG, Georgalas I
BMC Ophthalmol 2016 Jul 8;16:102. doi: 10.1186/s12886-016-0285-2. PMID: 27390837Free PMC Article

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