IthaID: 314


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: -(α)20.5 HGVS Name: NG_000006.1:g.15164_37864del22701
Hb Name: N/A Protein Info: N/A

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 15164
Size: 22.701 kb
Deletion involves: ζ, α2, α1

Phenotype

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

Other details

Type of Mutation: Deletion
Ethnic Origin: Mediterranean
Inheritance: Recessive
DNA Breakpoint Determined: Yes
Detection Methods: MLPA

Frequencies

Publications / Origin

  1. Nicholls RD, Higgs DR, Clegg JB, Weatherall DJ, Alpha zero-thalassemia due to recombination between the alpha 1-globin gene and an AluI repeat., Blood, 65(6), 1434-8, 1985
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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