IthaID: 3514



Names and Sequences

Functionality: Globin gene causative mutation
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.

External Links

No available links

Location

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

Phenotype

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

Other details

Type of Mutation: Deletion
Ethnic Origin: Belgian
Inheritance: Recessive
DNA Breakpoint Determined: No

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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