IthaID: 3711
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| 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 |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 53.854 kb |
| Deletion involves: | HS40 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| 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)
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