IthaID: 2153



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Kabylia deletion/insertion HGVS Name: U01317.1:g.62009_64049del2040insATAAG
Hb Name: N/A Protein Info: β nts -8536 - -6497 deleted

Comments: Deletion of 2040 nts with 5 nts insertion removing the HBB gene and its promoter

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70417
Size: 2.04 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: Algerian
Inheritance: Recessive
DNA Breakpoint Determined: Yes
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Joly P, Lacan P, Garcia C, Couprie N, Francina A, Identification and molecular characterization of four new large deletions in the beta-globin gene cluster., Blood Cells Mol. Dis. , 43(1), 53-7, 2009 PubMed
Created on 2013-09-28 18:28:24, Last reviewed on 2015-12-07 12:20:37 (Show full history)

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