IthaID: 3073



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Italian (εγδβ)0 deletion HGVS Name: NC_000011.10:g.[5194397_5357192del;5194356_5194401insAGCTAAAGGTTTTGTAAATGCACCAATCAGCAATCTGTGTCTAACTC]
Hb Name: N/A Protein Info: N/A

Comments: The deletion spans 163 kb and involves the entire β-globin gene cluster. The 5′ breakpoint is within a LINE element of 80 kb 3′ of the ε-globin gene, and the 3′ breakpoint is within a 160-bp palindrome of about 30 kb 5′ of the β-globin gene. The carrier shows a beta-thalassemia phenotype with normal Hb A2 and Hb F level.

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 163 kb
Deletion involves: 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: Italian
Inheritance: Recessive
DNA Breakpoint Determined: Yes
Detection Methods: Gap-PCR, MLPA

Sequence Viewer

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Publications / Origin

  1. Cardiero G, Prezioso R, Dembech S, Del Vecchio Blanco F, Scarano C, Lacerra G, Identification and molecular characterization of a novel 163 kb deletion: The Italian (ϵγδβ)(0)-thalassemia., Hematology , 21(5), 317-24, 2016 PubMed
Created on 2016-09-06 18:42:39, Last reviewed on 2016-09-07 10:07:05 (Show full history)

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