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
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
Created on 2013-09-30 10:13:53,
Last reviewed on 2020-01-20 11:01:48 (Show full history)
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