IthaID: 1497


Names and Sequences

Functionality: Globin gene causative mutation
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

External Links

Location

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

Phenotype

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

Other details

Type of Mutation: Deletion
Ethnic Origin: Mediterranean
Inheritance: Recessive
DNA Breakpoint Determined: Yes
Detection Methods: MLPA

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
  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
  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
Created on 2010-06-16 16:13:17, Last reviewed on 2018-05-08 12:38:15 (Show full history)

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