IthaID: 2283


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: South-Italy HGVS Name: NC_000011.10:g.5164564_5230714del
Hb Name: N/A Protein Info: N/A

Also known as:

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 66902
Size: 66.151 kb
Deletion involves: β

Other details

Type of Mutation: Deletion
Ethnic Origin: South-Italian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

Publications / Origin

  1. De Angioletti M, Sabato V, Musollino G, Prezioso R, Carestia C, Lacerra G, South-Italy β°-thalassemia: a novel deletion not removing the γ-globin silencing element and with 3' breakpoint in a hsRTVL-H element, associated with β°-thalassemia and high levels of HbF., Haematologica , 98(8), e98-e100, 2013
Created on 2013-10-09 13:23:26, Last reviewed on 2020-07-06 13:36:08 (Show full history)

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