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_5227791del3490bp |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: Thai, 3485 bp deletion
Comments: The deletion spans approximately 3.5 kb on the β-globin gene cluster, removing the β-globin gene promoter and the whole β-globin gene. The 5' and 3' breakpoints are located at positions 5224302 and 5227791, respectively (GRCh37/hg19). Co-inheritance with a β+ mutation led to a severe transfusion-dependent anemia.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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: | N/A |
| 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
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
- 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
- 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
Created on 2019-04-08 16:09:58,
Last reviewed on 2020-01-29 08:51:49 (Show full history)
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