IthaID: 322



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: --CI HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as: 28+ kb deletion.

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 27 kb
Deletion involves: 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: Spanish
Inheritance: Recessive
DNA Breakpoint Determined: No
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Gonzalez-Redondo JM, Diaz-Chico JC, Malcorra-Azpiazu JJ, Balda-Aguirre MI, Huisman TH, Characterization of a newly discovered alpha-thalassaemia-1 in two Spanish patients with Hb H disease., Br. J. Haematol. , 70(4), 459-63, 1988 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-06-04 10:54:44 (Show full history)

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