IthaID: 3849
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | ~72 kb εγδβ(0) del | HGVS Name: | NC_000011.10:g.(5200032_5215881)_(5288356_5295076)del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Found in a newborn Greek female who received erythrocyte transfusion immediately after birth due to severe hemolytic anaemia. Mother and maternal grandmother of the proband had a history of unexplained neonatal anemia restricted to neonatal and early infant period, microcytic hypochromic hemolytic anemia and cholelithiasis later in life. The deletion caused severe but transient neonatal anemia and a non-transfusion-dependent chronic hemolytic anemia state later in life, resembling mild β-thalassemia intermedia. The Greek deletion is about 72 kb in length, spanning from hypersensitive site 4 (HS4) in the LCR to the 3’ end of the β-globin gene.
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
- Makis A, Georgiou I, Traeger-Synodinos J, Storino MR, Giuliano M, Andolfo I, Hatzimichael E, Chaliasos N, Giapros V, Izzo P, Iolascon A, Grosso M, A Novel εγδβ-Thalassemia Deletion Associated with Severe Anemia at Birth and a β-Thalassemia Intermedia Phenotype Later in Life in Three Generations of a Greek Family., Hemoglobin, 2019