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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).
Autosomal recessive inheritance (Orphanet)
 
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

Importance of RDW value in differential diagnosis of hypochrome anemias.
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

Prevalence of Hemoglobinopathies in Premarital Screening in the Province of Nigde, Turkey.
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
Molecular characterization of a novel homozygous deletion in β-globin cluster causing (δβ)(0)-Thalassemia among Tunisian family.
Kalai M, Moumni I, Ouragini H, Ben Fraj I, Mellouli F, Ouederni M, Chaouachi D, Boudriga I, Menif S
Ann Clin Biochem 2023 Mar;60(2):81-85. Epub 2022 Oct 18 doi: 10.1177/00045632221134688. PMID: 36214153
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
Clinical relevance of erythrocyte ferritin in microcytic anemias.
Vagace JM, Peças A, Groiss J, Bento C, Ribeiro ML, Gervasini G
Clin Chim Acta 2015 Mar 10;442:1-5. Epub 2015 Jan 3 doi: 10.1016/j.cca.2014.12.035. PMID: 25562818
Delta beta thalassemia and hereditary persistence of fetal hemoglobin.
Bollekens JA, Forget BG
Hematol Oncol Clin North Am 1991 Jun;5(3):399-422. PMID: 1713909

Diagnosis

Prevalence of Hemoglobinopathies in Premarital Screening in the Province of Nigde, Turkey.
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
Blueberry Muffin Skin Lesions in an Infant With Epsilon Gamma Delta Beta Thalassemia.
Puar N, Newell B, Shao L
Pediatr Dev Pathol 2019 Nov-Dec;22(6):599-600. Epub 2019 May 14 doi: 10.1177/1093526619850663. PMID: 31088202
The clinical severity of hemoglobin S/Black ((A) γδβ)(0) -thalassemia.
Cancio MI, Aygun B, Chui DHK, Rothman JA, Scott JP, Estepp JH, Hankins JS
Pediatr Blood Cancer 2017 Nov;64(11) Epub 2017 Apr 28 doi: 10.1002/pbc.26596. PMID: 28453928Free PMC Article
The New -474(C→T) Substitution Discovered in the HBG2 Promoter of a Sardinian δβ-Thalassemia Carrier.
Trova S, Mereu P, Cocco E, Masala B, Manca L, Pirastru M
Acta Haematol 2016;136(3):178-85. Epub 2016 Aug 26 doi: 10.1159/000447942. PMID: 27561840
Reticulocyte parameters of delta beta thalassaemia trait, beta thalassaemia trait and iron deficiency anaemia.
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

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
The clinical severity of hemoglobin S/Black ((A) γδβ)(0) -thalassemia.
Cancio MI, Aygun B, Chui DHK, Rothman JA, Scott JP, Estepp JH, Hankins JS
Pediatr Blood Cancer 2017 Nov;64(11) Epub 2017 Apr 28 doi: 10.1002/pbc.26596. PMID: 28453928Free PMC Article
Reticulocyte parameters of delta beta thalassaemia trait, beta thalassaemia trait and iron deficiency anaemia.
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
A frequent A gamma-hereditary persistence of fetal hemoglobin in northern Sardinia: its molecular basis and hematologic phenotype in heterozygotes and compound heterozygotes with beta-thalassemia.
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

Prevalence of Hemoglobinopathies in Premarital Screening in the Province of Nigde, Turkey.
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
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
The New -474(C→T) Substitution Discovered in the HBG2 Promoter of a Sardinian δβ-Thalassemia Carrier.
Trova S, Mereu P, Cocco E, Masala B, Manca L, Pirastru M
Acta Haematol 2016;136(3):178-85. Epub 2016 Aug 26 doi: 10.1159/000447942. PMID: 27561840
Reticulocyte parameters of delta beta thalassaemia trait, beta thalassaemia trait and iron deficiency anaemia.
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
Clinical relevance of erythrocyte ferritin in microcytic anemias.
Vagace JM, Peças A, Groiss J, Bento C, Ribeiro ML, Gervasini G
Clin Chim Acta 2015 Mar 10;442:1-5. Epub 2015 Jan 3 doi: 10.1016/j.cca.2014.12.035. PMID: 25562818

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