IthaID: 2570



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Sardinian duplication HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Comments: The duplication, spanning at least 170 kb, includes the α-globin genes and the regulatory elements MCS-R1, MCS-R2(HS40), MCS-R3 and MCS-R4.

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 170 kb
Located at: HS40, ζ, α2, α1

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:N/A
Associated Phenotypes: N/A

Other details

Type of Mutation: Duplication
Ethnic Origin: Sardinian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Gap-PCR, MLPA

Sequence Viewer

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Publications / Origin

  1. Sollaino MC, Paglietti ME, Perseu L, Giagu N, Loi D, Galanello R, Association of α globin gene quadruplication and heterozygous β thalassemia in patients with thalassemia intermedia., Haematologica , 94(10), 1445-8, 2009 PubMed
Created on 2015-12-08 10:58:46, Last reviewed on (Show full history)

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