IthaID: 298



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Filipino HGVS Name: NG_000007.3:g.66258_184734del118477
Hb Name: N/A Protein Info: N/A

Also known as: ~45 kb deletion

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 66258
Size: 45 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: Filipino
Inheritance: Recessive
DNA Breakpoint Determined: No
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Motum PI, Kearney A, Hamilton TJ, Trent RJ, Filipino beta zero thalassaemia: a high Hb A2 beta zero thalassaemia resulting from a large deletion of the 5' beta globin gene region., Journal of medical genetics, 30(3), 240-4, 1993 PubMed
  2. Dimovski AJ, Baysal E, Efremov DG, Prior JF, Raven JL, Efremov GD, Huisman TH, A large beta-thalassemia deletion in a family of Indonesian-Malay descent., Hemoglobin, 20(4), 377-92, 1996 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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