IthaID: 3071



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --235 HGVS Name: NC_000016.10:g.10001_185264del
Hb Name: N/A Protein Info: N/A

Also known as: --175

Comments: The deletion involves the entire α-globin gene cluster. It starts from the telomere (position 60001 bp) to a downstream breakpoint localised to position 235,263 bp (GRCh37.p13). According to the telomere starting site, the duplication spans a smaller region of 175 kb. Heterozygosity for this deletion associated with one functioning α-globin gene, explaining the severe anemia phenotype.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 175.263 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

Sequence Viewer

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Publications / Origin

  1. Hu L, Shang X, Yi S, Cai R, Li Z, Liu C, Liang Y, Cai D, Zhang F, Xu X, Two novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families., Mol. Genet. Genomics , 291(3), 1443-50, 2016 PubMed
Created on 2016-09-06 17:44:26, Last reviewed on 2021-06-25 11:24:34 (Show full history)

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