IthaID: 3606
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 177 Kb deletion | HGVS Name: | NC_000011.10:g.5241050_5418009del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The deletion spans 177 kb on the beta-globin gene cluster, removing the globin genes HBG1, HBG2 and HBE, and the βLCR enhancer. It extends into the proximally situated olfactory receptor gene cluster, deleting genes OR51B4, OR51B2, OR51B6, OR51M1, OR51J1 and OR51B5. The (εγ)δβ0-thal deletion is found in a heterozygous state in a father and his daughter of Swiss origin. The father had microcytic hypochromic anaemia (Hb 14.7 g/dL, HbA2 2.2 %, MCV 73.2 fL, MCH 24.8 pg). The daughter was also carrier of the Hb A2-Gebenstorf variant [ithaID=3406], presenting with a beta-thalassaemia minor phenotype (Hb 10.6 g/dL, MCV 61.0 fL, MCH 18.2 pg, HbA2 0%, HbF 0.7%). Deletion breakpoints are reported as followed: arr[GRCh37] 11p15.4(5262280_5439239)x1
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: | Swiss |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
Publications / Origin
- Saller E, Knijnenburg J, Harteveld CL, Dutly F, A Woman with Missing Hb A Due to a Novel (εγ)δβ-Thalassemia and a Novel δ-Globin Variant Hb A-Gebenstorf (: c.209G>A)., Hemoglobin, 44(3), 214-217, 2020 PubMed