IthaID: 284



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 468 bp deletion HGVS Name: NC_000011.10:g.5227081_5227548del
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: 70068
Size: 468 bp
Deletion involves: β

Other details

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

Sequence Viewer

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Publications / Origin

  1. Kueviakoe I, Gerard N, Krishnamoorthy R, Pereira S, Elion J, Ducrocq R, A new high A2-beta-thalassemia due to a 468 bp deletion (-475 to -8) in the beta-globin gene promoter of the intact beta-globin structural gene., Hemoglobin, 28(1), 69-72, 2004 PubMed
  2. Pissard S, Raclin V, Lacan P, Garcia C, Aguilar-Martinez P, Francina A, Joly P, Characterization of three new deletions in the β-globin gene cluster during a screening survey in two French urban areas., Clin. Chim. Acta , 415(1), 35-40, 2013 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2021-03-19 12:30:50 (Show full history)

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