IthaID: 289


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Croatian HGVS Name: NG_000007.3:g.69561_71164del1604
Hb Name: N/A Protein Info: N/A

Also known as: 1605 bp deletion

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 69561
Size: 1.605 kb
Deletion involves: β

Other details

Type of Mutation: Deletion
Ethnic Origin: Croatian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: No

Publications / Origin

  1. Dimovski AJ, Efremov DG, Jankovic L, Plaseska D, Juricic D, Efremov GD, A beta zero-thalassaemia due to a 1605 bp deletion of the 5' beta-globin gene region., British journal of haematology, 85(1), 143-7, 1993
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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