IthaID: 330

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --11.1 HGVS Name: NG_000006.1:g.(31695_31724)_(42846_42867)del
Hb Name: N/A Protein Info: N/A

Also known as: 11.1 kb deletion

External Links

No available links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 11.1 kb
Deletion involves: α2, α1

Other details

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

Publications / Origin

  1. Jia SQ, Li J, Mo QH, Liao C, Li LY, Xu XM, Alpha0 thalassaemia as a result of a novel 11.1 kb deletion eliminating both of the duplicated alpha globin genes., Journal of clinical pathology, 57(2), 164-7, 2004
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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