IthaID: 4083

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -(α)4.9 HGVS Name: NC_000016.10:g.172367_177259delinsG
Hb Name: N/A Protein Info: N/A

Also known as: 4.9 Kb deletion

Comments: The deletion removes 4893 nucleotides within the α-globin gene cluster, extending from 480 bp upstream of the HBA2 gene to IVS I-126 of the HBA1 gene. Characterized by Sanger Sequencing. It can be identified using the multiplex Gap PCR method (PMID: 11439976) with α2/3.7-F and 3.7/20.5-R primers.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 33230
Size: 4.893 kb
Deletion involves: α2, α1

Other details

Type of Mutation: Deletion
Ethnic Origin: Malay
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint 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To the best of our knowledge, this is unpublished data.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 Syazlin2023-11-20First report.
Created on 2023-11-23 10:57:15, Last reviewed on (Show full history)

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