IthaID: 3868
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | >35.3 Kb deletion | HGVS Name: | NG_000007.3:g.(21655_27675)_(63032_64586)del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Found in compound heterozygosity with HBB:c.315+1G>A [IthaID:200] in a regular transfusion dependent patient. Patient’s father also has the deletion. He presented with hematological finding consistent with heterozygous β-thalassaemia. MLPA analysis shown that the >35.3 Kb deletion includes HBBP1, HBG1, HBG2, HBE and part of HBD.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | εγδβ-thalassaemia |
| Allele Phenotype: | (εGγAγδβ)0 |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Greek |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Traeger Synodinos, Jan | 2021-10-01 | First report. |
| 2 | Vrettou, Christina | 2021-10-01 | First report. |
Created on 2021-10-05 11:14:36,
Last reviewed on 2022-09-15 09:48:43 (Show full history)
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