IthaID: 2997

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: -72 T>A HGVS Name: HBB:c.-122T>A
Hb Name: N/A Protein Info: β nt -72 T>A

Also known as:

Comments: Point-mutation located in the CCAAT box of the β-globin promoter at position -72 from the Cap site. Luciferase assay showed a decrease of about 50% in transcriptional activity.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70473
Size: 1 bp
Located at: β
Specific Location: Promoter

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Pirastru M, Mereu P, Nguyen CQ, Nguyen NV, Nguyen TD, Manca L, A Novel -72 (T→A) β-Promoter Mutation Causing Slightly Elevated HbA2 in a Vietnamese Heterozygote., Biomed Res Int , 2017(0), 4537409, 2017 PubMed
Created on 2016-08-24 09:21:48, Last reviewed on 2017-07-31 12:28:39 (Show full history)

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