IthaID: 3514

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 170 kb deletion HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Found in a four-generation autochthonous Belgian family consisting of six individuals diagnosed with alpha-thal trait. The deletion spans approximately 170 kb and is located between ~0.2 Mb and ~0.4 Mb from the telomere of 16p, leaving the subtelomeric region intact but removing both α-globin genes, HBA2 and HBA1, as well as HBQ1, LUC7L, ITFG3, RGS11, ARHGDIG, PDIA2 and AXIN1 genes.

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: Haemolytic anaemia [HP:0001878]


Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 170 kb
Deletion involves: α2, α1, AXIN1

Other details

Type of Mutation: Deletion
Ethnic Origin: Belgian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Heireman L, Luyckx A, Schynkel K, Dheedene A, Delaunoy M, Adam AS, Gulbis B, Dierick J, Detection of a Large Novel α-Thalassemia Deletion in an Autochthonous Belgian Family., Hemoglobin, 43(2), 112-115, 2019 PubMed
Created on 2019-12-03 16:12:26, Last reviewed on 2019-12-03 16:46:58 (Show full history)

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