IthaID: 2568



Names and Sequences

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

Comments: A complete duplication of the α-globin gene cluster on the other allele spanning a 175 kb region from the telomere to the 3′HVR downstream of the α-globin genes. This duplication defect in addition to a anti-3.7 triplication, brings the expression of the α-globin genes from the normal 4 to a total of 7, explaining the severe-intermediate status of this patient.

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 175 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 11:19:17, Last reviewed on 2015-12-08 17:19:21 (Show full history)

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