IthaID: 294


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Asian Indian HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as: 10329 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: N/A
Size: 10 kb
Deletion involves: β

Other details

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

Frequencies

Publications / Origin

  1. Craig JE, Kelly SJ, Barnetson R, Thein SL, Molecular characterization of a novel 10.3 kb deletion causing beta-thalassaemia with unusually high Hb A2., British journal of haematology, 82(4), 735-44, 1992
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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