IthaID: 1527

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Chinese (Aγδβ)0 HGVS Name: NC_000011.10:g.5169918_5248821del
Hb Name: N/A Protein Info: deletion of 78904 nts from the Aγ gene to β gene

Also known as:

Comments: The deletion spans about 80 kb and starts with its 5′ breakpoint in the intron II of the Αγ-globin gene and the 3′ breakpoint far downstream to the β-globin gene, also removing enhancer-like sequences that are normally found 53 kb 3′ of the β-globin gene. In other forms of (Aγδβ)0-thalassaemia (e.g., Yunnanese (Aγδβ)0 [IthaID: 1528]), the deletion brings these enhancer-like sequences near to the γ-globin genes, resulting in higher HbF expression. The homozygotes for the Chinese (Aγδβ)0 have less efficient γ-globin production, presenting with severe anaemia.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δβ-thalassaemia
Allele Phenotype:Gγ(Aγδβ)0
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 48795
Size: 78.904 kb
Deletion involves: , δ, β, pseudo β

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Mann JR, MacNeish AS, Bannister D, Clegg JB, Wood WG, Weatherall DJ, Delta-beta-thalassaemia in a Chinese family., Br. J. Haematol., 23(4), 393-402, 1972 PubMed
  2. Jones RW, Old JM, Trent RJ, Clegg JB, Weatherall DJ, Restriction mapping of a new deletion responsible for G gamma (delta beta)o thalassemia., Nucleic acids research, 9(24), 6813-25, 1981 PubMed
  3. Mager DL, Henthorn PS, Smithies O, A Chinese G gamma + (A gamma delta beta)zero thalassemia deletion: comparison to other deletions in the human beta-globin gene cluster and sequence analysis of the breakpoints., Nucleic Acids Res. , 13(18), 6559-75, 1985 PubMed
  4. He S, Wei Y, Lin L, Chen Q, Yi S, Zuo Y, Wei H, Zheng C, Chen B, Qiu X, The prevalence and molecular characterization of (δβ)(0) -thalassemia and hereditary persistence of fetal hemoglobin in the Chinese Zhuang population., J. Clin. Lab. Anal. , 2017 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2022-10-13 15:53:08 (Show full history)

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