IthaID: 2153

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Kabylia deletion/insertion HGVS Name: NG_000007.3:g.70417_72458delinsATAAG
Hb Name: N/A Protein Info: β nts -8536 - -6497 deleted

Also known as:

Comments: Found in a heterozygous state in a female originating from Kabylia (Algeria) and presenting with high levels of HbA2 (6.5%) and HbF (7.5%). The deletion spans approximately 2040 bp and removes the entire β-globin gene and its promoter. A 5 bp insertion (ATAAG) is detected in the deletion junction.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70417
Size: 2.04 kb
Deletion involves: β

Other details

Type of Mutation: Deletion
Ethnic Origin: Algerian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

In silico pathogenicity prediction

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 2019-11-14 10:21:35 (Show full history)

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