IthaID: 3068

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --MEX2 HGVS Name: NC_000016.10:g.(113775_130542)_(208161_249560)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: This deletion spans between 77.6 to 135.7 kb and involves the entire α-globin gene cluster. Breakpoints were localized to positions 103774-120541 at the 5' end, and positions 198161-239560 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: 135.7 kb
Deletion involves: HS40, ζ, α2, α1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. de-la-Cruz-Salcedo EI, Ibarra B, Rizo-de-la-Torre LC, Sánchez-López JY, González-Mercado A, Harteveld CL, Perea-Díaz FJ, Molecular analysis of complex cases of alpha- and beta-thalassemia in Mexican mestizo patients with microcytosis and hypochromia reveals two novel alpha(0) -thalassemia deletions - -(Mex1) and - -(Mex2)., Int J Lab Hematol , 2016 PubMed
Created on 2016-09-06 14:54:02, Last reviewed on 2016-09-07 11:07:38 (Show full history)

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