IthaID: 2418
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Swiss (εγδβ)0 | HGVS Name: | NC_000011.10:g.(4002734_4002784)_ (6907712_6907762)del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Found in a Swiss female presented with hypochromic anaemia with erythroblastosis and reticulocytosis. She required repeated blood transfusions during the first few days of life. During infantile development, she showed a spastic cerebral paresis combined with developmental delay, small height, low weighted and slightly dysmorphic features including a narrow upper lip, a flat philtrum, upslanting palpebral fissures, and hypoplastic ear lobules. This (εγδβ)0-thal deletion doubles the size and triples the number of affected genes.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | εγδβ-thalassaemia |
| Allele Phenotype: | (εGγAγδβ)0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Swiss |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Von Kanel T, Röthlisberger B, Schanz U, Dutly F, Huber AR, Saller E, A Swiss (εγδβ)⁰-thalassemia patient with a novel 3-Mb deletion associated with mild mental impairment., Am. J. Hematol. , 88(2), 158-9, 2013
Created on 2014-05-29 12:40:19,
Last reviewed on 2021-03-17 13:14:26 (Show full history)
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