IthaID: 4061

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --Puglia HGVS Name: NC_000016.10:g.(54016_55432)_(220780_223388)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The size of the deletion is predicted between 165 bp and 169 kb removing a region containing MPG, NPRL3, and all the α-globin gene cluster, to about 3/4 of the LUC7L gene. The breakpoints could not be determined due to the presence of several repetitive elements. The 5′ undefined region is between position 54,016 up to 55,432, and the 3′ undefined region is between position 220,780 up to 223,388 (GRCh38). The deletion was identified in a family from Puglia and was associated with α0-thalassemia and not the ATR-16 syndrome.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 169.373 kb
Deletion involves: HS40, 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 14:45:35, Last reviewed on 2024-02-13 16:04:02 (Show full history)

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