IthaID: 334


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: (αα)IJ HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: de novo deletion

External Links

No available links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 35 kb
Deletion involves: HS40

Other details

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

Publications / Origin

  1. Liebhaber SA, Griese EU, Weiss I, Cash FE, Ayyub H, Higgs DR, Horst J, Inactivation of human alpha-globin gene expression by a de novo deletion located upstream of the alpha-globin gene cluster., Proceedings of the National Academy of Sciences of the United States of America, 87(23), 9431-5, 1990
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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