IthaID: 2232



Names and Sequences

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

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.

External Links

No available links

Location

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

Phenotype

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

Other details

Type of Mutation: Deletion
Ethnic Origin: Chinese
Inheritance: Recessive
DNA Breakpoint Determined: Yes
Detection Methods: Gap-PCR, MLPA

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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