IthaID: 3021

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --JAL HGVS Name: NC_000016.10:g.(149437_149482)_(179595_179654)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: This deletion spans between 28.9 to 36.5 kb and extends from upstream of the ζ gene to a breakpoint located between the α1- and θ-globin genes. Breakpoints were localized to positions 139436-139481 at the 5' end, and positions 169594-169653 at the 3’ end.

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: 30 kb
Deletion involves: ζ, α2, α1

Other details

Type of Mutation: Deletion
Ethnic Origin: Israeli Arabs
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Gilad O, Dgany O, Noy-Lotan S, Krasnov T, Elitzur S, Pissard S, Kventsel I, Yacobovich J, Tamary H, Characterization of two unique α-globin gene cluster deletions causing α-thalassemia in Israeli Arabs., Hemoglobin , 38(5), 319-24, 2014 PubMed
Created on 2016-08-25 16:51:34, Last reviewed on 2016-08-26 10:54:08 (Show full history)

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