IthaID: 1538



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: English I (εγδβ)0 HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Comments: The deletion includes genes ε and part of the Gγ but not the Aγ, δ, and β genes. The β gene remains intact but inactive.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 100 kb
Deletion involves: βLCR, ε,

Phenotype

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

Other details

Type of Mutation: Deletion
Ethnic Origin: English
Inheritance: Recessive
DNA Breakpoint Determined: No
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Curtin P, Pirastu M, Kan YW, Gobert-Jones JA, Stephens AD, Lehmann H, A distant gene deletion affects beta-globin gene function in an atypical gamma delta beta-thalassemia., The Journal of clinical investigation, 76(4), 1554-8, 1985 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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