IthaID: 2232

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -α27.6 HGVS Name: NG_000006.1:g.9079_36718del27640
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion spans 27.6 kb on the α-globin gene cluster and involves deletion of the HBA2 gene, causing deficient α-globin production. The 5' breakpoint was at 9,079 bp and the 3' breakpoint at 36,718 bp.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 9079
Size: 27.64 kb
Deletion involves: ζ, α2

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. Wei XF, Shang X, He DQ, Huang JW, Zhang XH, Xu XM, Molecular characterization of a novel 27.6-kb deletion causing α(+) thalassemia in a Chinese family., Ann. Hematol. , 90(1), 17-22, 2011 PubMed
  2. Wang XY, Lin MX, Lin M, A novel 6.3 kb deletion and the Rare 27.6 kb Deletion Causing α(+)-Thalassemia in two Chinese Patients., Hemoglobin , 40(5), 365-368, 2016 PubMed
Created on 2013-10-03 11:28:19, Last reviewed on 2017-01-17 11:22:47 (Show full history)

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