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


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


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

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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)

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