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Delta-beta-thalassemia

MedGen UID:
78790
Concept ID:
C0271985
Disease or Syndrome
Synonym: Delta-Beta Thalassemia
SNOMED CT: Delta beta thalassemia (16360009); Delta-beta thalassemia (16360009); F thalassemia (16360009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0016489
OMIM®: 141749; 141900
Orphanet: ORPHA231237

Definition

Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDelta-beta-thalassemia
Follow this link to review classifications for Delta-beta-thalassemia in Orphanet.

Professional guidelines

PubMed

Aslan D, Gümrük F, Gürgey A, Altay C
Am J Hematol 2002 Jan;69(1):31-3. doi: 10.1002/ajh.10011. PMID: 11835328

Recent clinical studies

Etiology

Seydel GS, Ayan D, Balci T, Bayraktar M, Gunturk I
Hemoglobin 2023 Nov;47(2):36-41. Epub 2023 May 15 doi: 10.1080/03630269.2023.2206971. PMID: 37184118
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
Nadkarni A, Wadia M, Gorakshakar A, Kiyama R, Colah RB, Mohanty D
Hemoglobin 2008;32(5):425-33. doi: 10.1080/03630260802341687. PMID: 18932066
Bollekens JA, Forget BG
Hematol Oncol Clin North Am 1991 Jun;5(3):399-422. PMID: 1713909
Efremov GD
Haematologica 1990 Sep-Oct;75 Suppl 5:31-41. PMID: 2086380

Diagnosis

Seydel GS, Ayan D, Balci T, Bayraktar M, Gunturk I
Hemoglobin 2023 Nov;47(2):36-41. Epub 2023 May 15 doi: 10.1080/03630269.2023.2206971. PMID: 37184118
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
Pandey H, Ranjan R, Singh K, Sharma A, Kishor K, Seth T, Saxena R
Hematology 2018 Oct;23(9):692-696. Epub 2018 Apr 5 doi: 10.1080/10245332.2018.1458934. PMID: 29621931
Velasco-Rodríguez D, Alonso-Domínguez JM, González-Fernández FA, Villarrubia J, Sopeña M, Abalo L, Ropero P, Martínez-Nieto J, de la Fuente Gonzalo F, Cava F
J Clin Pathol 2016 Feb;69(2):149-54. Epub 2015 Aug 11 doi: 10.1136/jclinpath-2015-203034. PMID: 26265587
Schwartz E, Cohen A, Surrey S
Hemoglobin 1988;12(5-6):551-64. doi: 10.3109/03630268808991644. PMID: 2463234

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
Orts JA, Zúñiga Á, Bello Y, Fabregat AB, Vicente AI
Hemoglobin 2016 Sep;40(5):335-340. Epub 2016 Sep 22 doi: 10.1080/03630269.2016.1224767. PMID: 27535164
Velasco-Rodríguez D, Alonso-Domínguez JM, González-Fernández FA, Villarrubia J, Sopeña M, Abalo L, Ropero P, Martínez-Nieto J, de la Fuente Gonzalo F, Cava F
J Clin Pathol 2016 Feb;69(2):149-54. Epub 2015 Aug 11 doi: 10.1136/jclinpath-2015-203034. PMID: 26265587
Ottolenghi S, Camaschella C, Comi P, Giglioni B, Longinotti M, Oggiano L, Dore F, Sciarratta G, Ivaldi G, Saglio G
Hum Genet 1988 May;79(1):13-7. doi: 10.1007/BF00291702. PMID: 2452784

Clinical prediction guides

Seydel GS, Ayan D, Balci T, Bayraktar M, Gunturk I
Hemoglobin 2023 Nov;47(2):36-41. Epub 2023 May 15 doi: 10.1080/03630269.2023.2206971. PMID: 37184118
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
Velasco-Rodríguez D, Alonso-Domínguez JM, González-Fernández FA, Villarrubia J, Sopeña M, Abalo L, Ropero P, Martínez-Nieto J, de la Fuente Gonzalo F, Cava F
J Clin Pathol 2016 Feb;69(2):149-54. Epub 2015 Aug 11 doi: 10.1136/jclinpath-2015-203034. PMID: 26265587
Efremov GD
Haematologica 1990 Sep-Oct;75 Suppl 5:31-41. PMID: 2086380

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