IthaID: 4057


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --PA HGVS Name: NC_000016.10:g.(146281_146304)_(180074_180097)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion is about 33 bp in length and removes the α-globin gene cluster. It was identified in five heterozygotes from two unrelated families from Palermo, Southern Italy.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 7144
Size: 34 kb
Deletion involves: ζ, α2, α1, HBM

Other details

Type of Mutation: Deletion
Ethnic Origin: Italian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Cardiero G, Musollino G, Prezioso R, Nigro V, Lacerra G, Alpha-Thalassemia in Southern Italy: Characterization of Five New Deletions Removing the Alpha-Globin Gene Cluster., Int J Mol Sci, 24(3), 0, 2023
Created on 2023-07-05 14:31:29, Last reviewed on 2024-02-09 12:44:31 (Show full history)

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