IthaID: 2155
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | French West-Indies deletion/insertion | HGVS Name: | NG_000007.3:g.57155_80887delinsCAGCAGGAAAGTGAGAAG |
| Hb Name: | N/A | Protein Info: | deletion of 23728 nts from the δ gene to β gene |
| Also known as: | French West-Indies HPFH deletion |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Found in a heterozygous state in a female with a normal haematological phenotype. The deletion spans approximately 23730 bp and removes both the β- and δ-globin genes with insertion of 18 nucleotides (CAGCAGGAAAGTGAGAAG) in the deletion junction. Found in combination with HbS in the mother (hence, hemizygous), presenting a very similar hematological phenotype except for the presence of HbS.
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: | 57155 |
| Size: | 23.733 kb |
| Deletion involves: | δ, β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | French West-Indies |
| 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 19:01:08,
Last reviewed on 2019-11-14 11:26:14 (Show full history)
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