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.

External Links

Phenotype

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

Location

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

Sequence Viewer

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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)

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