
IthaID: 3711
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
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Common Name: | (αα)YD | HGVS Name: | NC_000016.10:g.94096_147948del |
Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The novel deletion found in a heterozygous individual with Hb 12.8 g/dL, MCV 0.1 fL, MCH 21.4 pg and HbA2 2.4 %. The deletion, also found in combination with the Hb Constant Spring [IthaID: 418], causing Hb H disease. The compound heterozygote patient presenting mild thalassaemia with Hb 8.5 g/dL, MCV 77 fL, MCH 23 pg, HbA2 2.0 %, Hb CS 1.1 %, HbH 2.3 %, Hb Bart’s 3.2 %. The deletion affects the major regulatory element HS-40.
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: | 53.854 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: | Yes |
Publications / Origin
- Fan Jiang, Li-Li Xu, Xue-Wei Tang, Dong-Zhi Li, A novel deletion of the major regulatory element flanking the α-globin gene cluster as a cause of α 0 -thalassemia, Int J Lab Hematol ., 43(4), 0, 2021
Microattributions
A/A | Contributor(s) | Date | Comments |
---|---|---|---|
1 | Jiang, Fan | 2021-01-14 | First report. |
Created on 2021-01-14 13:52:22,
Last reviewed on 2022-01-04 13:21:00 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2021-01-14 13:52:22 | The IthaGenes Curation Team | Created |
2 | 2021-04-19 11:01:52 | The IthaGenes Curation Team | Reviewed. Common name corrected. |
3 | 2021-11-30 16:00:00 | The IthaGenes Curation Team | Reviewed. Allele phenotype added. |
4 | 2022-01-04 12:45:34 | The IthaGenes Curation Team | Reviewed. Common name corrected. Reference added. |
5 | 2022-01-04 13:21:00 | The IthaGenes Curation Team | Reviewed. Size corrected. |
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IthaGenes was last updated on 2022-05-18 09:45:18