IthaID: 2125


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Afghan HGVS Name: NG_000007:g.70067_70976del
Hb Name: N/A Protein Info: N/A

Also known as: 909 bp deletion

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: 70067
Size: 909 bp
Deletion involves: β

Other details

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

Publications / Origin

  1. Gallienne AE, Iberson NM, Dréau HM, Jackson H, Bignell PA, Old JM, Schuh A, Henderson SJ, Characterization of a novel deletion causing beta-thalassemia major in an Afghan family., Hemoglobin , 34(1), 110-4, 2010
Created on 2013-09-24 10:38:50, Last reviewed on 2020-07-09 14:37:25 (Show full history)

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