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: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
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].
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
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)
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