IthaID: 2153
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Kabylia deletion/insertion | HGVS Name: | NG_000007.3:g.70417_72458delinsATAAG |
| Hb Name: | N/A | Protein Info: | β nts -8536 - -6497 deleted |
Also known as:
Comments: Found in a heterozygous state in a female originating from Kabylia (Algeria) and presenting with high levels of HbA2 (6.5%) and HbF (7.5%). The deletion spans approximately 2040 bp and removes the entire β-globin gene and its promoter. A 5 bp insertion (ATAAG) is detected in the deletion junction.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70417 |
| Size: | 2.04 kb |
| Deletion involves: | β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Algerian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Joly P, Lacan P, Garcia C, Couprie N, Francina A, Identification and molecular characterization of four new large deletions in the beta-globin gene cluster., Blood Cells Mol. Dis. , 43(1), 53-7, 2009
Created on 2013-09-28 18:28:24,
Last reviewed on 2019-11-14 10:21:35 (Show full history)
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