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delta Thalassemia

MedGen UID:
78791
Concept ID:
C0271990
Disease or Syndrome
Synonyms: delta-Thalassemia; delta-Thalassemias
SNOMED CT: Delta thalassemia (16427007)
 
OMIM®: 142000

Definition

A hereditary disorder characterized by reduced or absent DELTA-GLOBIN thus effecting the level of HEMOGLOBIN A2, a minor component of adult hemoglobin monitored in the diagnosis of BETA-THALASSEMIA. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVdelta Thalassemia

Professional guidelines

PubMed

Singha K, Fucharoen G, Fucharoen S
Ann Hematol 2021 Aug;100(8):1953-1963. Epub 2021 Apr 8 doi: 10.1007/s00277-021-04510-2. PMID: 33834283
Lacerra G, Scarano C, Lagona LF, Testa R, Caruso DG, Medulla E, Friscia MG, Mastrullo L, Caldora M, Prezioso R, Gaudiano C, Magnano C, Romeo MA, Musollino G, Di Noce F, Carestia C
Hemoglobin 2010;34(5):407-23. doi: 10.3109/03630269.2010.511586. PMID: 20854114
Cao A, Galanello R, Rosatelli MC
Blood Rev 1994 Mar;8(1):1-12. doi: 10.1016/0268-960x(94)90002-7. PMID: 8205005

Recent clinical studies

Etiology

Colaco S, Colah R, Nadkarni A
Sci Rep 2022 Mar 30;12(1):5414. doi: 10.1038/s41598-022-09250-5. PMID: 35354866Free PMC Article
Chen M, Huang H, Chen L, Lin N, Zhang M, Lin Y, Xu L
J Clin Lab Anal 2020 Nov;34(11):e23479. Epub 2020 Sep 9 doi: 10.1002/jcla.23479. PMID: 32901995Free PMC Article
Jiang F, Zuo L, Li D, Li J, Tang X, Chen G, Zhou J, Lu H, Liao C
BMC Med Genet 2020 Feb 28;21(1):43. doi: 10.1186/s12881-020-0981-x. PMID: 32111191Free PMC Article
Kordafshari A, Amirian A, Zeinali S, Valaei A, Maryami F, Karimipoor M
Hemoglobin 2016;40(1):44-7. doi: 10.3109/03630269.2015.1092982. PMID: 26754299
Moi P, Paglietti E, Sanna A, Brancati C, Tagarelli A, Galanello R, Cao A, Pirastu M
Blood 1988 Aug;72(2):530-3. PMID: 3401592

Diagnosis

Colaco S, Nadkarni A
Mutat Res Rev Mutat Res 2021 Jul-Dec;788:108387. Epub 2021 Jun 10 doi: 10.1016/j.mrrev.2021.108387. PMID: 34893152
Tang HS, Wang DG, Huang LY, Li DZ
Hemoglobin 2018 Mar;42(2):135-137. Epub 2018 May 8 doi: 10.1080/03630269.2018.1463916. PMID: 29737888
Brancaleoni V, Di Pierro E, Motta I, Cappellini MD
Int J Lab Hematol 2016 May;38 Suppl 1:32-40. Epub 2016 May 16 doi: 10.1111/ijlh.12527. PMID: 27183541
Pavlou E, Phylactides M, Kyrri A, Kalogerou E, Makariou C, Georgiou I, Kleanthous M
Hemoglobin 2006;30(4):455-62. doi: 10.1080/03630260600868006. PMID: 16987800
Cao A, Galanello R, Rosatelli MC
Blood Rev 1994 Mar;8(1):1-12. doi: 10.1016/0268-960x(94)90002-7. PMID: 8205005

Therapy

Tzortzis V, Mitrakas L, Gravas S, Mamoulakis C, Meissner A, Kyriakou D, Melekos MD
J Sex Med 2009 Jul;6(7):2068-71. Epub 2009 Apr 23 doi: 10.1111/j.1743-6109.2009.01285.x. PMID: 19453903
Pavlou E, Phylactides M, Kyrri A, Kalogerou E, Makariou C, Georgiou I, Kleanthous M
Hemoglobin 2006;30(4):455-62. doi: 10.1080/03630260600868006. PMID: 16987800
Ota Y, Yamaoka K, Sumida I, Fujita S, Fujimura T
Blood 1971 Jun;37(6):706-15. PMID: 5162313

Prognosis

Kasmi C, Amri Y, Hadj-Fredj S, Oueslati S, Dabboussi M, Mahjoub R, Hammami S, Aljane I, Mami FB, Jamoussi H, Messaoud T, Bibi A
Mol Biol Rep 2021 Aug;48(8):5923-5933. Epub 2021 Aug 3 doi: 10.1007/s11033-021-06592-7. PMID: 34341901
Hariharan P, Kishnani P, Sawant P, Gorivale M, Mehta P, Kargutkar N, Colah R, Nadkarni A
Ann Hematol 2020 Jul;99(7):1475-1483. Epub 2020 Jun 10 doi: 10.1007/s00277-020-04081-8. PMID: 32524201
Zhang J, Yang Y, Li P, Yan Y, Lv T, Zhao T, Zeng X, Li D, Zhou X, Chen H, Su J, Yang T, He J, Zhu B
Mol Genet Genomic Med 2019 Jun;7(6):e706. Epub 2019 May 1 doi: 10.1002/mgg3.706. PMID: 31044540Free PMC Article
Pandey H, Singh K, Ranjan R, Pandey SK, Sharma A, Kishor K, Seth T, Mahapatra M, Saxena R
Hematology 2019 Dec;24(1):349-352. doi: 10.1080/16078454.2019.1579985. PMID: 30777489
Brancaleoni V, Di Pierro E, Motta I, Cappellini MD
Int J Lab Hematol 2016 May;38 Suppl 1:32-40. Epub 2016 May 16 doi: 10.1111/ijlh.12527. PMID: 27183541

Clinical prediction guides

Kasmi C, Amri Y, Hadj-Fredj S, Oueslati S, Dabboussi M, Mahjoub R, Hammami S, Aljane I, Mami FB, Jamoussi H, Messaoud T, Bibi A
Mol Biol Rep 2021 Aug;48(8):5923-5933. Epub 2021 Aug 3 doi: 10.1007/s11033-021-06592-7. PMID: 34341901
Jiang F, Zuo L, Li D, Li J, Tang X, Chen G, Zhou J, Lu H, Liao C
BMC Med Genet 2020 Feb 28;21(1):43. doi: 10.1186/s12881-020-0981-x. PMID: 32111191Free PMC Article
Zhang J, Yang Y, Li P, Yan Y, Lv T, Zhao T, Zeng X, Li D, Zhou X, Chen H, Su J, Yang T, He J, Zhu B
Mol Genet Genomic Med 2019 Jun;7(6):e706. Epub 2019 May 1 doi: 10.1002/mgg3.706. PMID: 31044540Free PMC Article
Brancaleoni V, Di Pierro E, Motta I, Cappellini MD
Int J Lab Hematol 2016 May;38 Suppl 1:32-40. Epub 2016 May 16 doi: 10.1111/ijlh.12527. PMID: 27183541
Bouva MJ, Harteveld CL, van Delft P, Giordano PC
Haematologica 2006 Jan;91(1):129-32. PMID: 16434382

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