IthaID: 1530

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Italian (Aγδβ)0 HGVS Name: NC_000011.9:g.(5215685_5215688)_(5270743_5270746)del55059
Hb Name: N/A Protein Info: deletion of 55059 nts from the Aγ gene to β gene

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 55.059 kb
Deletion involves: , δ, β, pseudo β


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δβ-thalassaemia
Allele Phenotype:Gγ(Aγδβ)0
Associated Phenotypes: N/A

Other details

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

Sequence Viewer

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Publications / Origin

  1. Lacerra G, Prezioso R, Musollino G, Piluso G, Mastrullo L, De Angioletti M, Identification and molecular characterization of a novel 55-kb deletion recurrent in southern Italy: the Italian (G) γ((A) γδβ)°-thalassemia., Eur. J. Haematol. , 90(3), 214-9, 2013 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2014-04-09 10:11:15 (Show full history)

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