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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]

Professional guidelines

PubMed

δ-Hemoglobinopathies in Thailand: screening, molecular basis, genotype-phenotype interaction, and implication for prevention and control of thalassemia.
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
Genotype-phenotype relationship of the δ-thalassemia and Hb A(2) variants: observation of 52 genotypes.
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
Genotype-phenotype correlations in beta-thalassemias.
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

Significance of borderline HbA(2) levels in β thalassemia carrier screening.
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
First report of the spectrum of δ-globin gene mutations among women of reproductive age in Fujian area-Discrimination of δ-thalassemia, α-thalassemia, and Iron Deficiency Anemia.
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
Molecular epidemiology and hematologic characterization of δβ-thalassemia and hereditary persistence of fetal hemoglobin in 125,661 families of greater Guangzhou area, the metropolis of southern China.
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
Molecular Characterization of δ-Thalassemia in Iran.
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
Molecular characterization of delta beta-thalassemia and hereditary persistence of fetal hemoglobin in the Indian population.
Nadkarni A, Wadia M, Gorakshakar A, Kiyama R, Colah RB, Mohanty D
Hemoglobin 2008;32(5):425-33. doi: 10.1080/03630260802341687. PMID: 18932066

Diagnosis

Detecting rare thalassemia in children with anemia using third-generation sequencing.
Ren ZM, Li WJ, Xing ZH, Fu XY, Zhang JY, Chen YS, Li DF
Hematology 2023 Dec;28(1):2241226. doi: 10.1080/16078454.2023.2241226. PMID: 37548329
Borderline HbA(2) levels: Dilemma in diagnosis of beta-thalassemia carriers.
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
Laboratory diagnosis of thalassemia.
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
Delta-thalassemia in Cyprus.
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
Genotype-phenotype correlations in beta-thalassemias.
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

Oral phosphodiesterase type 5 inhibitors alleviate recurrent priapism complicating thalassemia intermedia: a case report.
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
Delta-thalassemia in Cyprus.
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
Homozygous delta-thalassemia first discovered in Japanese family with hereditary persistence of fetal hemoglobin.
Ota Y, Yamaoka K, Sumida I, Fujita S, Fujimura T
Blood 1971 Jun;37(6):706-15. PMID: 5162313

Prognosis

Analysis of δ-globin gene alleles in Tunisians: description of three new delta-thalassemia mutations.
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
Genotypic-phenotypic heterogeneity of δβ-thalassemia and hereditary persistence of fetal hemoglobin (HPFH) in India.
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
Analysis of deletional hereditary persistence of fetal hemoglobin/δβ-thalassemia and δ-globin gene mutations in Southerwestern China.
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
Clinical variability and molecular characterization of Hbs/Gγ (Aγδβ)0-thal and Hbs/HPFH in Indian sickle cell disease patients: AIIMS experience.
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
Laboratory diagnosis of thalassemia.
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

Analysis of δ-globin gene alleles in Tunisians: description of three new delta-thalassemia mutations.
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
Molecular epidemiology and hematologic characterization of δβ-thalassemia and hereditary persistence of fetal hemoglobin in 125,661 families of greater Guangzhou area, the metropolis of southern China.
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
Analysis of deletional hereditary persistence of fetal hemoglobin/δβ-thalassemia and δ-globin gene mutations in Southerwestern China.
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
Laboratory diagnosis of thalassemia.
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
Known and new delta globin gene mutations and their diagnostic significance.
Bouva MJ, Harteveld CL, van Delft P, Giordano PC
Haematologica 2006 Jan;91(1):129-32. PMID: 16434382

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