IthaID: 3393
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 3.5 kb deletion | HGVS Name: | NC_000011.10:g.5224302_5227791del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: | Thai, 3485 bp deletion |
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.
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: | 69825 |
| Size: | 3.5 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
- 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
- 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
- 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 PubMed
- 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
- 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 PubMed
Created on 2019-04-08 16:09:58,
Last reviewed on 2025-03-12 08:32:43 (Show full history)
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