IthaID: 3663
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
---|---|---|---|
Common Name: | HS-40 deletion | HGVS Name: | NC_000016.10:g.(47217_113592)_(113687_143639)del |
Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The novel α-thal deletion found in combination with the rightward –α3.7 deletion causing Hb H disease in a 44-year-old man. Patient presented with moderate microcytic hypochromic anemia and electrophoresis analysis showed slightly low Hb A2, with a typical Hb H band (5.3%). The deletion removed the major regulatory element of the α-globin locus, HS-40. The 5’ breakpoint is localised between the positions 47217 and 113592 while the 3’ breakpoint is localized between 113687 and 143639 (coordinates: GRCh38.p13, NC_000016.10). As the breakpoints are not clearly defined the deletion size is just an approximation.
External Links
No available links
Phenotype
Hemoglobinopathy Group: | Thalassaemia |
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Hemoglobinopathy Subgroup: | α-thalassaemia |
Allele Phenotype: | α0 |
Associated Phenotypes: | N/A |
Location
Chromosome: | 16 |
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Locus: | NG_000006.1 |
Locus Location: | N/A |
Size: | 96.422 kb |
Deletion involves: | HS40 |
Other details
Type of Mutation: | Deletion |
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Ethnic Origin: | Chinese |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Breakpoint Determined: | No |
Sequence Viewer
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Publications / Origin
- Luo S, Chen X, Zhong Q, Wang Q, Xu Z, Qin L, Wang J, Yuan D, Yan T, Tang N, Analysis of rare thalassemia caused by HS-40 regulatory site deletion., Hematology, 25(1), 286-291, 2020 PubMed
Created on 2020-10-15 13:21:07,
Last reviewed on 2021-11-30 15:57:42 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2020-10-15 13:21:07 | The IthaGenes Curation Team | Created |
2 | 2020-10-15 13:21:52 | The IthaGenes Curation Team | Reviewed. Comment added. |
3 | 2021-11-30 15:57:42 | The IthaGenes Curation Team | Reviewed. Allele phenotype added. |
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IthaGenes was last updated on 2022-05-18 09:45:18