IthaID: 3570
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 1.78Mb εγδβ(0) del | HGVS Name: | NC_000011.10:g.(4302665_4322227)_(6099443_6100105)del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as: Bedouin
Comments: The deletion was reported in a Bedouin family with 8 members having εγδβ thassaemia. The propositus presented severe neonatal hemolytic anaemia and received several blood transfusions in the first months of life. The deletion was identified by MLPA analysis of the b-globin cluster (SALSA MLPA® Probemix P102-B1 HBB kit) and also by CGH-array. Length of the deletion is estimated approximately to 1.78 Mb encompassing the entire β-globin gene cluster and the control LCR region. The large deletion extends ~880 kb upstream and ~890 kb downstream to the cluster and involved more than 100 other genes. The 5’ breakpoint is localised, between the positions 4302665 and 4322227. The 3’ breakpoint is localized between the positions 6099443 and 6100105 (coordinates: GRCh38.p13, NC_000011.10). As the breakpoints are not clearly defined the deletion size is just an approximation.
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: | Haemolytic anaemia [HP:0001878] |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Bedouin |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Shalev H, Landau D, Pissard S, Krasnov T, Kapelushnik J, Gilad O, Broides A, Dgany O, Tamary H, A novel epsilon gamma delta beta thalassemia presenting with pregnancy complications and severe neonatal anemia., Eur. J. Haematol., 90(2), 127-33, 2013