IthaID: 3244

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: −KOZANI HGVS Name: NC_000016.10:g.(113686_143638)_(407521_?)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Heterozygous α0-thalassaemia with deletion of the entire α-globin gene cluster, leaving the HS-40 regulatory region intact. The deletion extended from the 3′ end of HS-40 to at least 2.4 kb beyond the 3′ end of the α1 gene. Breakpoints were not deciphered.

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: N/A
Deletion involves: ζ, α2, α1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Makis A, Georgiou I, Traeger-Synodinos J, Chaliasos N, Grosso M, Gambale A, Iolascon A, Diagnosis and molecular characterization of a novel α(0) -thalassemia deletion (-Kozani) found in a Greek child with unexplained microcytic hypochromic anemia., Int J Lab Hematol , 2017 PubMed
Created on 2017-07-12 13:31:19, Last reviewed on (Show full history)

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