IthaID: 3244
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | −KOZANI | HGVS Name: | NC_000016.10:g.(113686_143638)_(407521_?)del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Heterozygous α0-thalassaemia with deletion of the entire α-globin gene cluster, leaving the HS-40 regulatory region intact. The deletion extended from the 3′ end of HS-40 to at least 2.4 kb beyond the 3′ end of the α1 gene. Breakpoints were not deciphered.
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] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | N/A |
| Deletion involves: | ζ, α2, α1 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Greek |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Makis A, Georgiou I, Traeger-Synodinos J, Chaliasos N, Grosso M, Gambale A, Iolascon A, Diagnosis and molecular characterization of a novel α(0) -thalassemia deletion (-Kozani) found in a Greek child with unexplained microcytic hypochromic anemia., Int J Lab Hematol , 2017
Created on 2017-07-12 13:31:19,
Last reviewed on (Show full history)
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