IthaID: 3935
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 12.4 kb Mediterranean deletion | HGVS Name: | NG_000007.3:g.2798_15161delinsAGAGCCCT |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion removes the HS3, HS4 and HS5 elements of the βLCR. Found in a 5-year Canadian boy of Italian descent presented with a thalassaemic phenotype without history of perinatal anemia. The deletion was also reported in a fetus that showed signs of fetal anemia at 28 weeks of gestation. An uncomplicated intra-uterine blood transfusion was administered. The baby was born at 38 weeks with no signs of anemia or hemolysis [PIMD: 39488721].
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 2798 |
| Size: | 12.364 kb |
| Deletion involves: | βLCR |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Italian, Caucasian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Amid A, Cheong M, Eng B, Hanna M, Hohenadel BA, Nakamura LM, Walker L, Odame I, Kirby-Allen M, Waye JS, Hb S/β+-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the β locus control region., Haematologica , 100(5), e166-8, 2015 PubMed
- van der Meij E, Smiers FJW, Koopmann TT, Krapels I, LePoole K, Lopriore E, Middeldorp JM, Ootjers CS, Scharnhorst V, Scheepers HCJ, Harteveld CL, Verweij EJTJ, Heterozygous Beta-Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions., Prenat Diagn, 2024 PubMed
Created on 2022-05-27 09:36:29,
Last reviewed on 2024-11-15 13:57:36 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2022-05-27 09:36:29 | The IthaGenes Curation Team | Created |
| 2 | 2024-11-15 13:57:36 | The IthaGenes Curation Team | Reviewed. Reference and origin added. Comment reviewed. |
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IthaGenes was last updated on 2024-12-12 10:33:52