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: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
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.
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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