IthaID: 2167



Names and Sequences

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

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 160 kb
Deletion involves: βLCR, ε, , , δ, β, pseudo β

Phenotype

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

Other details

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

Sequence Viewer

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Publications / Origin

  1. Gallienne AE, Dréau HM, McCarthy J, Timbs AT, Hampson JM, Schuh A, Old JM, Henderson SJ, Multiplex ligation-dependent probe amplification identification of 17 different beta-globin gene deletions (including four novel mutations) in the UK population., Hemoglobin , 33(6), 406-16, 2009 PubMed
Created on 2013-09-30 11:52:44, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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