IthaID: 4178

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Bhutan-Nepal β-thal deletion HGVS Name: NG_000007.3:g.64637_72002del
Hb Name: N/A Protein Info: N/A
Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Comments: The δβ fusion gene identified in six individuals from Bhutan and Nepal. Molecular characterization demonstrated that the δβ hybrid gene encodes an amino acid sequence identical to that of the HBD gene product. Consequently, carriers of this deletion exhibit a β-thalassemia trait phenotype, with an unusually elevated Hb A₂ levels (6.0–8.6%) and mildly increased Hb F levels (2.4–6.7%).

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:(β)0
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 64637
Size: 7.365 kb
Fusion involves: δ, β

Other details

Type of Mutation: Fusion
Ethnic Origin: Bhutan, Nepal
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

To the best of our knowledge, this is unpublished data.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

Microattributions

A/AContributor(s)DateComments
1Waye, John S. 2026-02-12First report.
Created on 2026-02-13 09:13:37, Last reviewed on (Show full history)

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IthaGenes was last updated on 2026-02-13 09:37:19