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


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


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

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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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