IthaID: 2190
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 62-83 (+65 bp) | HGVS Name: | HBB:c.187_251dup |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The 65bp duplication first reported in a 30-year-old Ghanaian male and later in a 31-year-old African-Canadian female and her father. The duplication introduces a stop codon twenty-six amino acids further down the new reading frame leading to a truncated β chain of only 109 residues. In all 3 cases, the duplication found in association with the common δ globin variant Hb A2' [IthaID:1356] and all presented with Hb A2' variant and normal levels of HbA2. These findings support that the 65bp duplication and the δ globin variant Hb A2' are in cis.
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: | 70911 |
| Size: | 65 bp |
| Located at: | β |
Other details
| Type of Mutation: | Duplication |
|---|---|
| Ethnic Origin: | Ghanaian, African-Canadian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
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Publications / Origin
- Frischknecht H, Dutly F, A 65 bp duplication/insertion in exon II of the beta globin gene causing beta0-thalassemia., Haematologica , 92(3), 423-4, 2007 PubMed
- Waye JS, Eng B, Hellens L, Hohenadel BA, Nakamura LM, Walker L, Normal Hb A2 β-thalassemia trait: frameshift mutation (HBB: c.187_251dup) in cis with the Hb A2' δ-globin gene missense mutation (HBD: c.49G>C)., Hemoglobin , 37(2), 201-4, 2013 PubMed
Created on 2013-09-30 17:07:53,
Last reviewed on 2022-04-12 16:40:05 (Show full history)
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