IthaID: 338



Names and Sequences

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

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 48 kb
Deletion involves: HS40

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: Unknown
Inheritance: Recessive
DNA Breakpoint Determined: No
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Flint J, Craddock CF, Villegas A, Bentley DP, Williams HJ, Galanello R, Cao A, Wood WG, Ayyub H, Higgs DR, Healing of broken human chromosomes by the addition of telomeric repeats., American journal of human genetics, 55(3), 505-12, 1994 PubMed
  2. Viprakasit V, Kidd AM, Ayyub H, Horsley S, Hughes J, Higgs DR, De novo deletion within the telomeric region flanking the human alpha globin locus as a cause of alpha thalassaemia., Br. J. Haematol. , 120(5), 867-75, 2003 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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