IthaID: 1515

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Turkish (δβ)0 HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as: Turkish type 3 (δβ)0

Comments: The 30 kb deletion removes the δ- and β-globin genes. The 5' breakpoint is about 1.5 kb downstream of an enhancer-like sequence of the Aγ-globin gene and the 3' breakpoint is located in the L1 repeat sequence (KpnI site) 3' to the β-globin gene. The deletion is similar to that of the Indian type of (δβ)0-thal with a comparable 5' breakpoint but a 3' breakpoint which is 2.5 kb shorter.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δβ-thalassaemia
Allele Phenotype:GγAγ(δβ)0
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 30 kb
Deletion involves: δ, β, pseudo β

Other details

Type of Mutation: Deletion
Ethnic Origin: Turkish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Oner R, Oner C, Erdem G, Balkan H, Ozdağ H, Erkan M, Gümrük F, Gürgey A, Altay C, A novel (delta beta)(0)-thalassemia due to a approximately 30-kb deletion observed in a Turkish family., Acta haematologica, 96(4), 232-6, 1996
Created on 2010-06-16 16:13:17, Last reviewed on 2019-09-27 09:53:43 (Show full history)

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