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:

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.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: εγδβ-thalassaemia
Allele Phenotype:(εGγAγδβ)0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 2905.03 kb
Deletion involves: βLCR, ε, , , δ, β, pseudo β

Other details

Type of Mutation: Deletion
Ethnic Origin: Swiss
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. 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 PubMed
Created on 2014-05-29 12:40:19, Last reviewed on 2021-03-17 13:14:26 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.