IthaID: 292
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Turk | HGVS Name: | NG_000007.3:g.[52524_60162del;66278_73952del] |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: | ~7.6 kb deletion |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Restriction endonuclease analyses revealed two large deletions removing the entire β- and pseudo β-globin genes but leaving intact δ-globin gene. The first deletion (~7.6 Kb) extends from a point 1.5 Κb on the 3’ side of δ-globin gene to about 1.8 Κb on the 3‘side of the β-globin gene. The other deletion (~7.6 Kb) extends from a point 1.5 Κb on the 5’ side of the pseudo β-globin gene to about 4.5 Κb on the 3’ side of the pseudo β-globin gene. The two deletions found in homozygosity in a 2.5-month-old infant presented with β-thalassaemia major.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 66278 |
| Size: | 7.674 kb |
| Deletion involves: | β |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Turkish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Oner C, Oner R, Gürgey A, Altay C, A new Turkish type of beta-thalassaemia major with homozygosity for two non-consecutive 7.6 kb deletions of the psi beta and beta genes and an intact delta gene., British journal of haematology, 89(2), 306-12, 1995
Created on 2010-06-16 16:13:15,
Last reviewed on 2022-02-21 10:01:17 (Show full history)
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