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


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


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

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. 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)

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.