IthaID: 2497

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 49.98 kb (δβ)0 Indian del HGVS Name: NC_000011.10:g.5194285_5244267del
Hb Name: N/A Protein Info: N/A

Also known as: HPFH-9

Comments: The 5' breakpoint lies in Alu repeats at ~4 kb downstream of Gγ-globin gene and the 3' breakpoint lies in L1 repeat and a perfect 160 bp palindrome sequence.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: HPFH
Hemoglobinopathy Subgroup: HPFH
Allele Phenotype:GγAγ(δβ)0
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]


Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 49.98 kb
Deletion involves: δ, β, pseudo β

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Mayuranathan T, Rayabaram J, Das R, Arora N, Edison ES, Chandy M, Srivastava A, Velayudhan SR, Identification of rare and novel deletions that cause (δβ)(0) -thalassaemia and hereditary persistence of foetal haemoglobin in Indian population., Eur. J. Haematol. , 92(6), 514-20, 2014 PubMed
Created on 2014-06-05 09:40:03, Last reviewed on 2019-09-26 16:32:03 (Show full history)

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