IthaID: 286



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Asian Indian HGVS Name: NG_000007.3:g.71609_72227del619
Hb Name: N/A Protein Info: N/A

Also known as: 619 bp deletion

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71609
Size: 619 bp
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: Asian Indian, Pakistani
Inheritance: Recessive
DNA Breakpoint Determined: Yes
Detection Methods: MLPA

Sequence Viewer

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Frequencies

Publications / Origin

  1. Orkin SH, Old JM, Weatherall DJ, Nathan DG, Partial deletion of beta-globin gene DNA in certain patients with beta 0-thalassemia., Proceedings of the National Academy of Sciences of the United States of America, 76(5), 2400-4, 1979 PubMed
  2. Orkin SH, Kolodner R, Michelson A, Husson R, Cloning and direct examination of a structurally abnormal human beta 0-thalassemia globin gene., Proceedings of the National Academy of Sciences of the United States of America, 77(6), 3558-62, 1980 PubMed
  3. Baysal E, Sharma S, Wong SC, Jogessar VB, Huisman TH, Distribution of beta-thalassemia mutations in three Asian Indian populations with distant geographical locations., Hemoglobin, 18(3), 201-9, 1994 PubMed
  4. Yasmeen H, Toma S, Killeen N, Hasnain S, Foroni L, The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population., Eur J Med Genet , 59(8), 355-62, 2016 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2016-09-02 14:40:54 (Show full history)

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