IthaID: 1507



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Sicilian (δβ)0 HGVS Name: NG_000007.3:g.64336_77738del13403
Hb Name: N/A Protein Info: deletion of 13378 nts from the δ gene to β gene

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 64336
Size: 13.378 kb
Deletion involves: δ, 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: Mediterranean
Inheritance: Recessive
DNA Breakpoint Determined: Yes
Detection Methods: Direct DNA sequencing, MLPA

Sequence Viewer

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Frequencies

Publications / Origin

  1. Fritsch EF, Lawn RM, Maniatis T, Characterisation of deletions which affect the expression of fetal globin genes in man., Nature , 279(5714), 598-603, 1979 PubMed
  2. Ottolenghi S, Giglioni B, Comi P, Gianni AM, Polli E, Acquaye CT, Oldham JH, Masera G, Globin gene deletion in HPFH, delta (o) beta (o) thalassaemia and Hb Lepore disease., Nature , 278(5705), 654-7, 1979 PubMed
  3. 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
  4. Craig JE, Barnetson R, Weatherall DJ, Thein SL, Rapid detection of a 13.4-kb deletion causing delta beta thalassemia in an Egyptian family by polymerase chain reaction., Blood , 81(3), 861-3, 1993 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2015-06-30 15:46:25 (Show full history)

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