IthaID: 2156
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Algerian HPFH deletion | HGVS Name: | NG_000007.3:g.57141_81002del; 81008delA |
| Hb Name: | N/A | Protein Info: | deletion of 23860 nts from the δ gene to β gene |
Also known as:
Comments: Found in combination with Hb C in a female presenting with a chronic normochromic and normocytic anaemia. Haemoglobin analysis revealed the presence of HbC (57%), HbF (41%) and an absence of HbA. The deletion spans approximately 23862 bp and removes both the β- and δ-globin genes with a nt A deletion just after the 3′-deletion breakpoint.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | HPFH |
|---|---|
| Hemoglobinopathy Subgroup: | HPFH |
| Allele Phenotype: | HPFH |
| Associated Phenotypes: | Hb F levels [HP:0011904] [OMIM:141749] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 57141 or 81008 |
| Size: | 23.862 kb or 1 bp |
| Deletion involves: | δ, 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 19:04:51,
Last reviewed on 2019-11-14 14:34:23 (Show full history)
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