IthaID: 1546


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Chilean HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as:

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: εγδβ-thalassaemia
Allele Phenotype:(εGγAγδβ)0
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 153 kb
Deletion involves: βLCR, ε, , , δ, β, pseudo β

Other details

Type of Mutation: Deletion
Ethnic Origin: Chilean
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: No

Publications / Origin

  1. Game L, Bergounioux J, Close JP, Marzouka BE, Thein SL, A novel deletion causing (epsilon gamma delta beta) degrees thalassaemia in a Chilean family., British journal of haematology, 123(1), 154-9, 2003
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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