IthaID: 296


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Dutch HGVS Name: NG_000007.3:g.68071_80682del12612
Hb Name: N/A Protein Info: N/A

Also known as: 12620 bp deletion

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 68071
Size: 12.62 kb
Deletion involves: β

Other details

Type of Mutation: Deletion
Ethnic Origin: Dutch
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: No

Publications / Origin

  1. Schokker RC, Went LN, Bok J, A new genetic variant of beta-thalassaemia., Nature, 209(5018), 44-6, 1966
  2. Gilman JG, Huisman TH, Abels J, Dutch beta 0-thalassaemia: a 10 kilobase DNA deletion associated with significant gamma-chain production., British journal of haematology, 56(2), 339-48, 1984
  3. Gilman JG, The 12.6 kilobase DNA deletion in Dutch beta zero-thalassaemia., British journal of haematology, 67(3), 369-72, 1987
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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