IthaID: 3622
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --71.8 (71.8 Kb deletion) | HGVS Name: | NC_000016.10:g.138971_210817del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Found in a 6-months infant boy and his father presented with homogeneous microcytic hypochromic anemia and decrease MCV, MVH and HbA2 level. The proband characterized by neonatal high Hb Bart’s (γ4) level (3.8%). The 72 Kb deletion removed both α-globin genes and also the HBZ, HBQ and part of the LUC7L genes.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | 72.846 kb |
| Deletion involves: | ζ, α2, α1 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Xu ML, Qin JC, Chen BY, Yang XX, Liu HP, Yuan WX, Zhong JM, Huang LM, Zhou WJ, Characterization of a Novel 71.8 kb α-Thalassemia Deletion and Subsequent Summary of a Practical Procedure for Thalassemia Molecular Diagnosis., Hemoglobin, 2020
Created on 2020-09-08 11:00:01,
Last reviewed on 2020-09-08 11:00:38 (Show full history)
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