IthaID: 2567



Names and Sequences

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

Comments: This duplication was found spanning a region of approximately 260 kb starting 75 kb 5′ of the α2-globin gene to 185 kb downstream. This duplication defect increases the number of the α-globin genes from 4 to 6 in this patient, explaining the intermediate β-thalassemia status.

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 260 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: N/A
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Harteveld CL, Refaldi C, Cassinerio E, Cappellini MD, Giordano PC, Segmental duplications involving the alpha-globin gene cluster are causing beta-thalassemia intermedia phenotypes in beta-thalassemia heterozygous patients., Blood Cells Mol. Dis. , 40(3), 312-6, 2008 PubMed
Created on 2015-12-07 11:15:38, Last reviewed on (Show full history)

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