IthaID: 2238


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --BGS HGVS Name: NC_000016.10:g.47749_179374del
Hb Name: N/A Protein Info: N/A

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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: 131.6 kb
Deletion involves: HS40, ζ, α2, α1

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Phylipsen M, Traeger-Synodinos J, van der Kraan M, van Delft P, Bakker G, Geerts M, Kanavakis E, Stamoulakatou A, Karagiorga M, Giordano PC, Harteveld CL, A novel α(0) -thalassemia deletion in a Greek patient with HbH disease and β-thalassemia trait., Eur. J. Haematol. , 88(4), 356-62, 2012
Created on 2013-10-03 15:36:24, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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