IthaID: 4025

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Poly A (-T) AATAAA>AA-AAA HGVS Name: HBB:c.*110del
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:

Also known as:

Comments: The mutation deletes single nucleotide (-T) in the Poly A conserved region of the HBB gene thus may caused inefficient cleavage and polyadenylation of mRNA at the normal poly A site. This mutation most likely presented as beta plus mutation. This mutation was found in one individual with Hb level of 13.2 g/dL and had a HbA2 level of 3.8% by CE method. Common alpha thalassaemia (deletion and non-deletional) were tested and no alpha thalassaemia was detected.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available 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: 72128
Size: 1 bp
Located at: β
Specific Location: Poly(A)

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: RNA cleavage - Poly(A) signal (mRNA Processing)
Ethnic Origin: Malay
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!


1Abdul Hamid, Faidatul Syazlin2023-05-22First report.
Created on 2023-05-22 09:51:02, Last reviewed on (Show full history)

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