IthaID: 3073
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Italian (εγδβ)0 deletion | HGVS Name: | NC_000011.10:g.[5194397_5357192del;5194356_5194401insAGCTAAAGGTTTTGTAAATGCACCAATCAGCAATCTGTGTCTAACTC] |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion spans 163 kb and involves the entire β-globin gene cluster. The 5′ breakpoint is within a LINE element of 80 kb 3′ of the ε-globin gene, and the 3′ breakpoint is within a 160-bp palindrome of about 30 kb 5′ of the β-globin gene. The carrier shows a beta-thalassemia phenotype with normal Hb A2 and Hb F level.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | εγδβ-thalassaemia |
| Allele Phenotype: | (εGγAγδβ)0 |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Italian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Cardiero G, Prezioso R, Dembech S, Del Vecchio Blanco F, Scarano C, Lacerra G, Identification and molecular characterization of a novel 163 kb deletion: The Italian (ϵγδβ)(0)-thalassemia., Hematology , 21(5), 317-24, 2016
Created on 2016-09-06 18:42:39,
Last reviewed on 2016-09-07 10:07:05 (Show full history)
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