IthaID: 4144
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 58 (+69 bp) | HGVS Name: | HBB:c.176_244dup |
| Hb Name: | Hb Monza | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Identified in a 13-year-old Chinese girl presented with severe anaemia and hemolytic signs triggered by infection. HPLC and gel electrophoresis revealed normal HbA2 level (2.7%), a slightly elevated HbF level (6.5%), and the presence of an abnormal Hb fraction (20.8%). The abnormal Hb fraction was also observed in the mother and two siblings. The 23-amino-acid in-frame duplication in β-globin, preserves the α-β subunit interaction but results in an unstable hemoglobin phenotype rather than a β-thalassemia phenotype.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70900 |
| Size: | 69 bp |
| Located at: | β |
Other details
| Type of Mutation: | Duplication |
|---|---|
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Civettini I, Zappaterra A, Corti P, Messina A, Aroldi A, Biondi A, Cavalca F, Crippa V, Crosti F, Ferrari GM, Malighetti F, Mologni L, Piperno A, Ramazzotti D, Scollo C, Zambon A, Rossi F, Gambacorti-Passerini C, Hb Monza: A novel extensive HBB duplication with preserved α-β subunit interaction and unstable hemoglobin phenotype., Med, 2024
Created on 2025-03-17 10:46:32,
Last reviewed on 2025-03-17 10:47:42 (Show full history)
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