IthaID: 1514



Names and Sequences

Functionality: Globin gene causative mutation
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.

External Links

Location

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

Phenotype

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

Other details

Type of Mutation: Deletion
Ethnic Origin: Macedonian, Turkish
Inheritance: Recessive
DNA Breakpoint Determined: No

Sequence Viewer

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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 PubMed
  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 PubMed
  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 PubMed
  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 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2019-09-27 10:07:17 (Show full history)

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