IthaID: 3849
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
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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:
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.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
Hemoglobinopathy Group: | Thalassaemia |
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Hemoglobinopathy Subgroup: | εγδβ-thalassaemia |
Allele Phenotype: | (εGγAγδβ)0 |
Associated Phenotypes: | N/A |
Other details
Type of Mutation: | Deletion |
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Ethnic Origin: | Greek |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
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 PubMed
A/A | Date | Curator(s) | Comments |
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1 | 2021-08-30 12:38:44 | The IthaGenes Curation Team | Created |
2 | 2021-08-30 12:40:34 | The IthaGenes Curation Team | Reviewed. Reference added. |
3 | 2021-08-30 12:57:31 | The IthaGenes Curation Team | Reviewed. Locus location added. |
4 | 2022-07-12 11:26:50 | The IthaGenes Curation Team | Reviewed. Allele phenotype added. |