IthaID: 3327



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: --GX HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

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).

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 204 kb
Deletion involves: HS40, ζ, α2, α1, NPRL3, HBM

Phenotype

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

Other details

Type of Mutation: Deletion
Ethnic Origin: Chinese
Inheritance: Recessive
DNA Breakpoint Determined: No
Detection Methods: Gap-PCR, MLPA

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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