IthaID: 3577
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 59 Kb deletion | HGVS Name: | NC_000011.10:g.5236469_5295261del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The deletion was reported in a mixed European descent neonate presented with neonatal anaemia, thrombocytopenia and cutaneous extramedullary hematopoiesis. The propositus required multiple RBC and platelet transfusions in the first months of life. SNP microarray analysis identified a 59 kb deletion, including 3 genes in the β-globin cluster, the HBE, HBG1 and HBG2 genes, as well as the β-globin LCR, causing εγδβ thassaemia. The 5’ breakpoint is localised at position 5236469 and the 3’ breakpoint is localized at position 5295261 (coordinates: GRCh38.p13, NC_000011.10).
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | εγδβ-thalassaemia |
| Allele Phenotype: | (εGγAγδβ)0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | European Caucasian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
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Publications / Origin
- Repnikova E, Roberts J, Mc Dermott S, Farooqi MS, Iqbal NT, Silvey M, Nolen J, Taboada E, Li W, Clinical and molecular characterization of novel deletions causing epsilon gamma delta beta thalassemia: Report of two cases., Pathol. Res. Pract., 215(10), 152578, 2019 PubMed
Created on 2020-03-17 10:27:01,
Last reviewed on 2020-03-17 10:53:06 (Show full history)
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