IthaID: 3886

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: (αα)107kb deletion HGVS Name: NC_000016.10:g.44082_151511del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion spans approximately 107 kb on the α-globin gene cluster, removing the regulatory element HS-40 but leaving the two α-globin genes intact. Detected in a Chinese proband, 30-year-old female, with mild anemia, by third-generation sequencing, after MLPA failed because that the upstream breakpoint was out of probe scope. The exact breakpoints were validated by Gap-PCR and Sanger sequencing. Sanger sequencing confirmed the breakpoint in chr16:44082-151511 (GRch38/hg38), indicating that the deletion was 107,429 bp. The haematological characteristics of the deletion were very similar to the --SEA deletion.

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: N/A
Size: 107.429 kb
Deletion involves: HS40, NPRL3

Other details

Type of Mutation: Deletion
Ethnic Origin: Chinese
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To the best of our knowledge, this is unpublished data.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!


1Li, Youqiong2022-01-05First report.
Created on 2022-01-07 10:35:40, Last reviewed on 2023-02-03 12:34:46 (Show full history)

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