IthaID: 3014

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 2 CAT>C-T HGVS Name:  HBB:c.8delA
Hb Name: N/A Protein Info: β 1 (-T); modified C-terminal sequence: (1)Gly-Ile-(3)COOH

Protein sequence:

Also known as:

Comments: Found as a heterozygote associated with a beta-thal mutation. Observed in a child with clinical symptoms of thalassemia at an age of 6 months, with fever and pallor. The child only survived for 11 months with two transfusions occurring within survival period. This deletion results in a stop codon after third position of the growing amino-acid chain, purportedly leading to β0 condition from that allele.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70602
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Nagar R, Sinha S, Raman R, Genotype-phenotype correlation and report of novel mutations in β-globin gene in thalassemia patients., Blood Cells Mol. Dis. , 55(1), 10-4, 2015 PubMed
Created on 2016-08-24 12:11:41, Last reviewed on 2016-08-24 12:13:20 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.