IthaID: 3393

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Comments: The deletion spans approximately 3.5 kb within the β-globin gene cluster, removing both the β-globin gene promoter and the entire β-globin gene. Heterozygous carriers exhibit a mild anaemia phenotype, while co-inheritance with other β+/β0 mutations results in intermediate thalassemia, leading to moderate or severe transfusion-dependent anaemia, respectively.

Heterozygous records (preview in IthaPhen)

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
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
3. He S, Qin Q, Lin L, Zuo Y, Chen Q, Wei H, Zheng C, Chen B, Qiu X, First Identification of the 3.5 kb Deletion (NC_000011.10: g.5224302-5227791del3490bp) on the β-Globin Gene Cluster in a Chinese Family., Hemoglobin, 42(4), 272-275, 2018
4. 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
5. Fan YH, Duan CL, Luo SL, Ge SJ, Yu CF, Xi JM, Chu JY, Yang ZQ, [Identification of Rare 3.5 kb Deletion in the β-Globin Gene Cluster]., Zhongguo Shi Yan Xue Ye Xue Za Zhi, 33(1), 175-179, 2025