IthaID: 2157

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Indian HGVS Name: NG_000007.3:g.67357_71413del
Hb Name: N/A Protein Info: N/A

Also known as: 4056 bp deletion

Comments: The 4056-bp deletion was reported in a 4-year old Indian boy presented with hepatomegaly and severe anemia (Hb 5.5 g/dl) requiring frequent blood transfusions from the age of two years. Both parents had hypochromic microcytic anemia and increased HbA2 (>7%). The 5’ breakpoint is localised in the promoter region of the β-globin gene and the 3’ breakpoint is localized within the second intron of the β-globin gene (coordinates: GRCh38.p13, NC_000011.10).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 67357
Size: 4.056 kb
Deletion involves: β

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Mayuranathan T, Rayabaram J, Edison ES, Srivastava A, Velayudhan SR, A novel deletion of β-globin promoter causing high HbA2 in an Indian population., Haematologica , 97(9), 1445-7, 2012 PubMed
Created on 2013-09-28 19:17:11, Last reviewed on 2020-07-06 15:58:19 (Show full history)

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