IthaID: 1506



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Indian (δβ)0 HGVS Name: NG_000007.3:g.50509_83170del32662
Hb Name: N/A Protein Info: deletion of 32624 nts from the δ gene to β gene

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 50509
Size: 32.624 kb
Deletion involves: δ, β, pseudo β

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δβ-thalassaemia
Allele Phenotype:GγAγ(δβ)0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Deletion
Ethnic Origin: India
Inheritance: Recessive
DNA Breakpoint Determined: No
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Mishima N, Landman H, Huisman TH, Gilman JG, The DNA deletion in an Indian delta beta-thalassaemia begins one kilobase from the A gamma globin gene and ends in an L1 repetitive sequence., British journal of haematology, 73(3), 375-9, 1989 PubMed
  2. Gilman JG, Brinson EC, Mishima N, The 32.6 kb Indian delta beta-thalassaemia deletion ends in a 3.4 kb L1 element downstream of the beta-globin gene., Br. J. Haematol. , 82(2), 417-21, 1992 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2014-04-09 09:33:20 (Show full history)

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