IthaID: 2249


Names and Sequences

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

Also known as:

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: 15.977 kb
Deletion involves: HS40

Other details

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

Publications / Origin

  1. Viprakasit V, Harteveld CL, Ayyub H, Stanley JS, Giordano PC, Wood WG, Higgs DR, A novel deletion causing alpha thalassemia clarifies the importance of the major human alpha globin regulatory element., Blood , 107(9), 3811-2, 2006
Created on 2013-10-03 17:02:50, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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