IthaID: 3076



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: αααα391 HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Comments: The duplication spans about 391 kb and involves the entire α-globin gene cluster and the regulatory region (HS-40) of the α-globin gene, with a breakpoint between 151,483 and 542,029. Heterozygosity for this duplication defect (6 instead of 4 α-globin genes) associated with a haematologically silent phenotype. Co-inheritance with a β-globin gene defect associated with a β-thalassemia intermedia status.

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 1 bp
Deletion involves: HS40, ζ, α2, α1

Phenotype

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

Other details

Type of Mutation: Deletion
Ethnic Origin: Chinese
Inheritance: Recessive
DNA Breakpoint Determined: Yes
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Jiang H, Liu S, Zhang YL, Wan JH, Li R, Li DZ, Association of an α-globin gene cluster duplication and heterozygous β-thalassemia in a patient with a severe thalassemia syndrome., Hemoglobin , 39(2), 102-6, 2015 PubMed
Created on 2016-09-08 19:03:59, Last reviewed on 2016-09-08 19:04:53 (Show full history)

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