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