IthaID: 283

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 290 bp deletion HGVS Name: HBB:c.-176_92+25del
Hb Name: N/A Protein Info: N/A

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70419
Size: 290 bp
Deletion involves: β

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Diaz-Chico JC, Yang KG, Kutlar A, Reese AL, Aksoy M, Huisman TH, An approximately 300 bp deletion involving part of the 5' beta-globin gene region is observed in members of a Turkish family with beta-thalassemia., Blood, 70(2), 583-6, 1987 PubMed
  2. Aulehla-Scholz C, Spiegelberg R, Horst J, A beta-thalassemia mutant caused by a 300-bp deletion in the human beta-globin gene., Human genetics, 81(3), 298-9, 1989 PubMed
  3. Hamid M, Dawoody Nejad L, Shariati G, Galehdari H, Saberi A, Mohammadi-Anaei M, The First Report of a 290-bp Deletion in β-Globin Gene in the South of Iran., Iran. Biomed. J. , 2016 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2016-09-06 16:18:23 (Show full history)

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