IthaID: 325


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --RT HGVS Name: NG_000006.1:g.12264_49164del36901
Hb Name: N/A Protein Info: N/A

Also known as:

External 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: 12264
Size: 36.901 kb
Deletion involves: ζ, α2, α1

Other details

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

Publications / Origin

  1. Sabath DE, Detter JC, Tait JF, A novel deletion of the entire alpha globin locus causing alpha-thalassemia-1 in a northern European family., American journal of clinical pathology, 102(5), 650-4, 1994
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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