IthaID: 3265


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: α-globin cluster triplication HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Comments: Triplication of the entire α-globin gene cluster and the regulatory region (HS-40) of the α-globin gene. Found in combination with heterozygous β-thalassaemia, resulting in a clinical presentation of thalassaemia intermedia. Identified by whole exome sequencing.

External Links

No available links

Location

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

Phenotype

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

Other details

Type of Mutation: Duplication
Ethnic Origin: Eastern-European & Ashkenazi Jew
Inheritance: N/A
DNA Sequence Determined: Yes
Detection Methods: MLPA

Publications / Origin

  1. Steinberg-Shemer O, Ulirsch JC, Noy-Lotan S, Krasnov T, Attias D, Dgany O, Laor R, Sankaran VG, Tamary H, Whole exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia., Cold Spring Harb Mol Case Stud , 2017
Created on 2017-09-27 17:50:12, Last reviewed on (Show full history)

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