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

Comments: 11.465 + 1.593del | 7.6 inv

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
Detection Methods: MLPA

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. 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
  2. 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
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:28:32 (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.

Please publish modules in offcanvas position.