IthaID: 2124
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Caucasian HPFH | HGVS Name: | NC_000011.10:g.5201455_5229279delins5223936_5223960 |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: 27825 bp deletion
Comments: The deletion was reported in six heterozygotes patients of Caucasian origin presented with slightly reduced hematologic indices (MCV 77 fL and MCH 25 pg), and elevated levels of HbA2 (3.9%) and HbF (>20%). Is a 27825 bp deletion with a 25 bp insertion, affecting only the entire β-globin gene, whose breakpoints are very similar to the South East Asian (SEA) deletion breakpoints [IthaID: 2126]. Position of the deletion indicate that the Caucasian deletion is more akin to a β-thal phenotype with raised HbF, because of the deletion of γ-silencing element, HS-1 site, at the 3’ breakpoint.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | HPFH |
| Associated Phenotypes: | Hb F levels [HP:0011904] [OMIM:141749] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 68337 |
| Size: | 27.825 kb |
| Deletion involves: | β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Caucasian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Pissard S, Raclin V, Lacan P, Garcia C, Aguilar-Martinez P, Francina A, Joly P, Characterization of three new deletions in the β-globin gene cluster during a screening survey in two French urban areas., Clin. Chim. Acta , 415(1), 35-40, 2013