IthaID: 295

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Australian (Anglo Saxon) HGVS Name: NC_000011.10:g.5215894_5227926del
Hb Name: N/A Protein Info: N/A

Also known as: 12023 bp deletion

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 12.023 kb
Deletion involves: β

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Motum PI, Lindeman R, Hamilton TJ, Trent RJ, Australian beta zero-thalassaemia: a high haemoglobin A2 beta zero-thalassaemia due to a 12 kb deletion commencing 5' to the beta-globin gene., British journal of haematology, 82(1), 107-13, 1992 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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