IthaID: 1526



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Black (Aγδβ)0 HGVS Name: NG_000007.3:g.49040_84889del35850
Hb Name: N/A Protein Info: deletion of 35850 nts from the Aγ gene to β gene

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 49040
Size: 35.85 kb
Deletion involves: , δ, β, pseudo β

Phenotype

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

Other details

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

Sequence Viewer

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Publications / Origin

  1. Henthorn PS, Smithies O, Nakatsuji T, Felice AE, Gardiner MB, Reese AL, Huisman TH, (A gamma delta beta)0-Thalassaemia in Blacks is due to a deletion of 34 kbp of DNA., British journal of haematology, 59(2), 343-56, 1985 PubMed
  2. Henthorn PS, Smithies O, Mager DL, Molecular analysis of deletions in the human beta-globin gene cluster: deletion junctions and locations of breakpoints., Genomics, 6(2), 226-37, 1990 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2014-04-09 09:52:45 (Show full history)

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