IthaID: 2159
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | (εγδβ)0 with α triplication | HGVS Name: | N/A |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The (εγδβ)°-thalassemia deletion is associated with an alpha globin gene triplication. This combination leads to a fetal thalassemic syndrome responsible for hydrops foetalis syndrome requiring multiple intra uterine RBC transfusions.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | εγδβ-thalassaemia |
| Allele Phenotype: | (εGγAγδβ)0 |
| Associated Phenotypes: | N/A |
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
- Rose C, Rossignol J, Lambilliotte A, Depret S, Le Metayer N, Pissard S, A novel (epsilongammadeltabeta)(o)-thalassemia deletion associated with an alpha globin gene triplication leading to a severe transfusion dependent fetal thalassemic syndrome., Haematologica, 94(4), 593-4, 2009 PubMed
Created on 2013-09-30 10:13:53,
Last reviewed on 2020-01-20 11:01:48 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2013-09-30 10:13:53 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2020-01-20 11:01:48 | The IthaGenes Curation Team | Reviewed. Comment added |
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IthaGenes was last updated on 2024-11-20 13:24:07