IthaID: 2248



Names and Sequences

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

Comments: De novo deletion

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

Sequence Viewer

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Publications / Origin

  1. 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 2013-10-03 16:58:07, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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