IthaID: 4057
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --PA | HGVS Name: | NC_000016.10:g.(146281_146304)_(180074_180097)del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The deletion is about 33 bp in length and removes the α-globin gene cluster. It was identified in five heterozygotes from two unrelated families from Palermo, Southern Italy.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Italian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Cardiero G, Musollino G, Prezioso R, Nigro V, Lacerra G, Alpha-Thalassemia in Southern Italy: Characterization of Five New Deletions Removing the Alpha-Globin Gene Cluster., Int J Mol Sci, 24(3), 0, 2023
Created on 2023-07-05 14:31:29,
Last reviewed on 2024-02-09 12:44:31 (Show full history)
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