IthaID: 1530


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Italian (Aγδβ)0 HGVS Name: NC_000011.10:g.5194458_5249516del
Hb Name: N/A Protein Info: deletion of 55059 nts from the Aγ gene to β gene

Also known as:

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 48100
Size: 55.059 kb
Deletion involves: , δ, β, pseudo β

Other details

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

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
Created on 2010-06-16 16:13:17, Last reviewed on 2021-03-19 13:29:11 (Show full history)

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