IthaID: 1527

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.

Heterozygous records (preview in IthaPhen)

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
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
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
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