IthaID: 3244



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: −KOZANI HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

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.

External Links

No available links

Location

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

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: Greek
Inheritance: Recessive
DNA Breakpoint Determined: No
Detection Methods: MLPA

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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