IthaID: 3067


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --MEX1 HGVS Name: NG_000006.1:g.3(33114_33812)_(40649_42021)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: This deletion spans between 6.8 to 8.9 kb. Breakpoints were localized to positions 162250-162948 at the 5' end, and positions 169785-171157 at the 3’ end.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 8.9 kb
Deletion involves: α2, α1

Other details

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

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
Created on 2016-09-06 14:52:19, Last reviewed on 2016-09-07 11:11:34 (Show full history)

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