IthaID: 110



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: IVS I-5 (G>A) + Corfu deletion HGVS Name: NG_000007.3:g.57237_64443del7207; HBB:c.92+5G>A
Hb Name: N/A Protein Info: N/A

Also known as: 7.2 kb Corfu δβ thalassaemia, Corfu (δβ)0

Comments: The Corfu 7.2 kb delta-thalassaemia deletion in linkage to the (β)+-thalassaemia mutation IVSI-5 G>A results in the allele known as Corfu delta beta thalassaemia mutation. Note it has been shown that the Corfu delta beta thalassaemia mutation does not completely abolish the expression of the beta-globin gene (ref. PMID: 1720325)

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 57237 or 70691
Size: 7.207 kb or 1 bp
Deletion involves: δ, β

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δβ-thalassaemia
Allele Phenotype:β+
(δ)0
Associated Phenotypes: N/A

Other details

Type of Mutation: Deletion
Ethnic Origin: Greek
Inheritance: Recessive
DNA Breakpoint Determined: Yes
Detection Methods: Direct DNA sequencing, MLPA

Sequence Viewer

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Publications / Origin

  1. Wainscoat JS, Thein SL, Wood WG, Weatherall DJ, Metaxotou-Mavromati A, Tzotos S, Kanavakis E, Kattamis C, A novel deletion in the beta-globin gene complex., Annals of the New York Academy of Sciences, 445(0), 20-7, 1985 PubMed
  2. Kulozik AE, Yarwood N, Jones RW, The Corfu delta beta zero thalassemia: a small deletion acts at a distance to selectively abolish beta globin gene expression., Blood , 71(2), 457-62, 1988 PubMed
  3. Traeger-Synodinos J, Tzetis M, Kanavakis E, Metaxotou-Mavromati A, Kattamis C, The Corfu delta beta thalassaemia mutation in Greece: haematological phenotype and prevalence., British journal of haematology, 79(2), 302-5, 1991 PubMed
  4. Chakalova L, Osborne CS, Dai YF, Goyenechea B, Metaxotou-Mavromati A, Kattamis A, Kattamis C, Fraser P, The Corfu deltabeta thalassemia deletion disrupts gamma-globin gene silencing and reveals post-transcriptional regulation of HbF expression., Blood , 105(5), 2154-60, 2005 PubMed
Created on 2010-06-16 16:13:14, Last reviewed on 2018-05-08 12:37:44 (Show full history)

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