IthaID: 1514


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Macedonian/Turkish (δβ)0 HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as: Turkish type 2 (δβ)0 | Turkish Inv/Del (δβ)0

Comments: This inversion-deletion is characterized by a 5' deletion of 11.5 kb and a 3' deletion of 1.6 kb flanking an inverted region of DNA of 7.6 kb. The DNA sequences at the breakpoints were elucidated by cloning and sequencing.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 11.465 kb
Deletion involves: δ, β

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Ottolenghi S, Giglioni B, The deletion in a type of delta 0-beta 0-thalassaemia begins in an inverted AluI repeat., Nature, 300(5894), 770-1, 1982
  2. Efremov GD, Nikolov N, Hattori Y, Bakioglu I, Huisman TH, The 18- to 23-kb deletion of the Macedonian delta beta-thalassemia includes the entire delta and beta globin genes., Blood, 68(4), 971-4, 1986
  3. Kulozik AE, Bellan-Koch A, Kohne E, Kleihauer E, A deletion/inversion rearrangement of the beta-globin gene cluster in a Turkish family with delta beta zero-thalassemia intermedia., Blood, 79(9), 2455-9, 1992
  4. Craig JE, Barnetson RA, Prior J, Raven JL, Thein SL, Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification., Blood, 83(6), 1673-82, 1994
Created on 2010-06-16 16:13:17, Last reviewed on 2019-09-27 10:07:17 (Show full history)

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