IthaID: 3272

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -533 (-ATAAG) HGVS Name: HBG2:c.-533_-529delATAAG
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The 5 bp deletion (-ATAAG) resides in the GATA-I binding site in the promoter region, resulting in the upregulation of γ-globin gene expression by disrupting GATA-I binding and the associated repressor complex. When co-inherited with β-thalassemia trait it leads to a phenotype of HPFH.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: HPFH
Hemoglobinopathy Subgroup: HPFH
Allele Phenotype:N/A
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 42302
Size: 5 bp
Located at:
Specific Location: Promoter

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Promoter (Transcription)
Ethnic Origin: N/A
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Hariharan P, Sawant M, Gorivale M, Manchanda R, Colah R, Ghosh K, Nadkarni A, Synergistic effect of two β globin gene cluster mutations leading to the hereditary persistence of fetal hemoglobin (HPFH) phenotype., Mol. Biol. Rep. , 44(5), 413-417, 2017 PubMed
Created on 2017-11-08 17:50:58, Last reviewed on (Show full history)

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