IthaID: 292


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Turk HGVS Name: NG_000007.3:g.[52524_60162del;66278_73952del]
Hb Name: N/A Protein Info: N/A

Also known as: ~7.6 kb deletion

Comments: Restriction endonuclease analyses revealed two large deletions removing the entire β- and pseudo β-globin genes but leaving intact δ-globin gene. The first deletion (~7.6 Kb) extends from a point 1.5 Κb on the 3’ side of δ-globin gene to about 1.8 Κb on the 3‘side of the β-globin gene. The other deletion (~7.6 Kb) extends from a point 1.5 Κb on the 5’ side of the pseudo β-globin gene to about 4.5 Κb on the 3’ side of the pseudo β-globin gene. The two deletions found in homozygosity in a 2.5-month-old infant presented with β-thalassaemia major.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 66278
Size: 7.674 kb
Deletion involves: β

Other details

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

Publications / Origin

  1. Oner C, Oner R, Gürgey A, Altay C, A new Turkish type of beta-thalassaemia major with homozygosity for two non-consecutive 7.6 kb deletions of the psi beta and beta genes and an intact delta gene., British journal of haematology, 89(2), 306-12, 1995
Created on 2010-06-16 16:13:15, Last reviewed on 2022-02-21 10:01:17 (Show full history)

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