IthaID: 290



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Thai HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as: 3485 bp deletion

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 3.485 kb
Deletion involves: β

Phenotype

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

Other details

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

Sequence Viewer

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Publications / Origin

  1. Sanguansermsri T, Pape M, Laig M, Hundrieser J, Flatz G, Beta zero-thalassemia in a Thai family is caused by a 3.4 kb deletion including the entire beta-globin gene., Hemoglobin, 14(2), 157-68, 1990 PubMed
  2. Lynch JR, Brown JM, Best S, Jennings MW, Weatherall DJ, Characterization of the breakpoint of a 3.5-kb deletion of the beta-globin gene., Genomics, 10(2), 509-11, 1991 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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