IthaID: 290



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Thai HGVS Name: NG_000007.3:g.69826_73313del
Hb Name: N/A Protein Info: N/A

Also known as: 3485 bp deletion, Chongqing deletion, NC_000011.10: g.5224303-5227790del, NC_000011.9: g.5245533_5249020del

Comments: The 5’ breakpoint is located 769bp upstream, and the 3’ breakpoint lies 1292bp downstream from the β-globin gene.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 69826
Size: 3.488 kb
Deletion involves: β

Other details

Type of Mutation: Deletion
Ethnic Origin: Thai, Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Sanguansermsri T, Pape M, Laig M, Hundrieser J, Flatz G, Beta zero-thalassemia in a Thai family is caused by a 3.4 kb deletion including the entire beta-globin gene., Hemoglobin, 14(2), 157-68, 1990 PubMed
  2. Lynch JR, Brown JM, Best S, Jennings MW, Weatherall DJ, Characterization of the breakpoint of a 3.5-kb deletion of the beta-globin gene., Genomics, 10(2), 509-11, 1991 PubMed
  3. Yin ZZ, Yao J, Wei FX, Chen CY, Yan HM, Zhang M, Targeted Next-Generation Sequencing Reveals a Large Novel β-Thalassemia Deletion that Removes the Entire Gene., Hemoglobin, 2022 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2022-12-12 15:56:44 (Show full history)

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