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:
Comments: The 65bp duplication found in 30-year old man combined with heterozygous -α4.2 thalassemia, αααanti3.7 triplication and the common δ globin variant HbA2’, with clinical presentation of a β0- thalassemia carrier. The high reticulocyte count (6.3%) and minimal splenomegaly are the only indications that this duplication could even lead towards a more severe phenotype. The duplication introduces a stop codon twenty-six amino acids further down the new reading frame leading to a truncated β chain of only 106 residues.
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 |
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Ethnic Origin: | Ghanaian |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | Yes |
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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
Created on 2013-09-30 17:07:53,
Last reviewed on 2021-01-20 10:04:13 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2013-09-30 17:07:53 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
3 | 2015-01-08 16:06:31 | The IthaGenes Curation Team | Reviewed. Common name corrected. |
4 | 2015-12-07 11:28:13 | The IthaGenes Curation Team | Reviewed. Mutation type corrected |
5 | 2017-01-24 12:53:57 | The IthaGenes Curation Team | Reviewed. DNA Info updated. |
6 | 2020-07-09 13:30:43 | The IthaGenes Curation Team | Reviewed. HGVS name, Chromosome and locus location corrected. Comments added. |
7 | 2020-07-09 13:32:15 | The IthaGenes Curation Team | Reviewed. |
8 | 2020-07-09 13:33:29 | The IthaGenes Curation Team | Reviewed. |
9 | 2020-07-09 13:56:15 | The IthaGenes Curation Team | Reviewed. Common name corrected. |
10 | 2021-01-20 10:04:13 | The IthaGenes Curation Team | Reviewed. Common name and locus location corrected. |
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IthaGenes was last updated on 2021-03-04 12:50:26