IthaID: 1497

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Corfu (δ)0 HGVS Name: NG_000007.3:g.57237_64443del7207
Hb Name: N/A Protein Info: δ nts -5897 - 1311 deleted

Also known as: 7.2kb Corfu deletion

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 57237
Size: 7.207 kb
Deletion involves: δ

Other details

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

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. 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
  2. Galanello R, Melis MA, Podda A, Monne M, Perseu L, Loudianos G, Cao A, Pirastu M, Piga A, Deletion delta-thalassemia: the 7.2 kb deletion of Corfu delta beta-thalassemia in a non-beta-thalassemia chromosome., Blood, 75(8), 1747-9, 1990 PubMed
  3. Ribeiro ML, Gu LH, Buchanan-Adair I, Huisman TH, Incorrect genetic counseling of a couple with beta-thalassemia, due to incomplete testing., Am. J. Hum. Genet. , 52(4), 842-3, 1993 PubMed
  4. Pissard S, Raclin V, Lacan P, Garcia C, Aguilar-Martinez P, Francina A, Joly P, Characterization of three new deletions in the β-globin gene cluster during a screening survey in two French urban areas., Clin. Chim. Acta , 415(1), 35-40, 2013 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2020-01-15 14:03:11 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.