IthaID: 2157
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Indian | HGVS Name: | NG_000007.3:g.67357_71413del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: | 4056 bp deletion |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The 4056-bp deletion was reported in a 4-year old Indian boy presented with hepatomegaly and severe anemia (Hb 5.5 g/dl) requiring frequent blood transfusions from the age of two years. Both parents had hypochromic microcytic anemia and increased HbA2 (>7%). The 5’ breakpoint is localised in the promoter region of the β-globin gene and the 3’ breakpoint is localized within the second intron of the β-globin gene (coordinates: GRCh38.p13, NC_000011.10).
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 67357 |
| Size: | 4.056 kb |
| Deletion involves: | β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Mayuranathan T, Rayabaram J, Edison ES, Srivastava A, Velayudhan SR, A novel deletion of β-globin promoter causing high HbA2 in an Indian population., Haematologica , 97(9), 1445-7, 2012
Created on 2013-09-28 19:17:11,
Last reviewed on 2020-07-06 15:58:19 (Show full history)
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