IthaID: 4058

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --FG HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion is predicted to span about 10 kb on the α-globin locus, removing both α-globin genes. It was reported in a family from Foggia as a heterozygote and together with the -α3.7 deletion. Compound heterozygotes had Hb H disease. The exact breakpoints could not be determined due to the presence of several repetitive sequences.

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: 10 kb
Deletion involves: ζ, α2, α1

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 14:35:34, Last reviewed on 2023-07-05 14:40:43 (Show full history)

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