IthaID: 3327

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --GX HGVS Name: NC_000016.10:g.(41492_43628)_(247888_254167)del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: Reported in a fetus with Hb Bart's hydrops fetalis that also carried the --SEA deletion. The deletion --GX (Guangxi) covers approximately 204 kb, removing the entire α-globin gene cluster, as well as the HS-40 control region. The 5' breakpoint is located just upstream of the POLR3K gene between positions 91492 and 93628, and the 3' breakpoint is located within the ITFG3 gene between positions 297887 and 304166 (GRCh37/hg19).

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: 204 kb
Deletion involves: HS40, ζ, α2, α1, NPRL3, HBM

Other details

Type of Mutation: Deletion
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. He S, Li J, Huang P, Zhang S, Lin L, Zuo Y, Tian X, Zheng C, Qiu X, Chen B, Characterization of Hb Bart's Hydrops Fetalis Caused by - -and a Large Novel α-Thalassemia Deletion., Hemoglobin , 2018 PubMed
Created on 2018-03-31 15:32:47, Last reviewed on (Show full history)

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