IthaID: 2238
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --BGS | HGVS Name: | NC_000016.10:g.47749_179374del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Greek |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Phylipsen M, Traeger-Synodinos J, van der Kraan M, van Delft P, Bakker G, Geerts M, Kanavakis E, Stamoulakatou A, Karagiorga M, Giordano PC, Harteveld CL, A novel α(0) -thalassemia deletion in a Greek patient with HbH disease and β-thalassemia trait., Eur. J. Haematol. , 88(4), 356-62, 2012
Created on 2013-10-03 15:36:24,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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