IthaID: 4015

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --259 HGVS Name: NC_000016.10:g.27301_286500del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The heterozygous deletion of approximately 259 kb includes the entire α-globin gene cluster. It was detected by NGS in the region chr16: 27,301–286,500 (hg38), but the exact breakpoints were not determined. The deletion was found together with α0-thalassemia (SEA deletion) in a lethal fetus with Hb Bart's hydrops fetalis syndrome. The mother and grandmother of the fetus were heterozygous carriers for this 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: 259.2 kb
Deletion involves: HS40, ζ, α2, α1, 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

  1. Zhu D, Xu L, Zhang Y, Liang G, Wei X, Li L, Jin W, Shang X, Investigation of the mechanism of copy number variations involving the α-globin gene cluster on chromosome 16: two case reports and literature review., Mol Genet Genomics, 298(1), 131-141, 2023 PubMed
Created on 2023-02-07 10:39:21, Last reviewed on 2023-02-07 11:32:21 (Show full history)

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