IthaID: 3294



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: 22 kb deletion HGVS Name: NG_000006.1:g.20350_42078del
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: The deletion spans approximately 22 kb on the α-globin gene cluster removing both α-globin genes. The 5' breakpoint is located within a region usptream of the HBZP pseudogene, and the 3' breakpoint is located within a region between the HBQ1 and LUC7L genes. It is similar to a deletion reported in [PMID: 20110179].

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: 20350
Size: 21.729 kb
Deletion involves: α2, α1, HBM

Other details

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

Sequence Viewer

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Publications / Origin

  1. Phylipsen M, Prior JF, Lim E, Lingam N, Vogelaar IP, Giordano PC, Finlayson J, Harteveld CL, Thalassemia in Western Australia: 11 novel deletions characterized by Multiplex Ligation-dependent Probe Amplification., Blood Cells Mol. Dis. , 44(3), 146-51, 2010 PubMed
  2. Mota NO, Kimura EM, Ferreira RD, Pedroso GA, Albuquerque DM, Ribeiro DM, Santos MNN, Bittar CM, Costa FF, Sonati MF, Rare α0-thalassemia deletions detected by MLPA in five unrelated Brazilian patients., Genet. Mol. Biol. , 40(4), 768-773, 2017 PubMed
Created on 2018-01-09 19:02:34, Last reviewed on 2022-01-24 17:48:01 (Show full history)

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