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.
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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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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 PubMed
Created on 2013-09-24 10:32:15,
Last reviewed on 2022-02-07 11:57:11 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2013-09-24 10:32:15 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2015-12-07 12:18:42 | The IthaGenes Curation Team | Reviewed. Mutation type corrected |
| 4 | 2020-03-26 12:04:55 | The IthaGenes Curation Team | Reviewed. HGVS name and locus location added. Comment and Chromosome location corrected. |
| 5 | 2020-03-26 12:08:32 | The IthaGenes Curation Team | Reviewed. Detail corrected. |
| 6 | 2022-02-07 11:57:11 | The IthaGenes Curation Team | Reviewed. Haemoglobinopathy type corrected. |
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IthaGenes was last updated on 2023-01-27 12:18:23