IthaID: 4187
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --40.6 kb | HGVS Name: | NC_000016.10:g.147495_188130del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: | 40.6 kb deletion |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Identified in 11 carriers of Punjabi origin presenting with the characteristic α⁰-thalassemia trait phenotype, including marked microcytosis (MCV 65.4 ± 3.8 fL) and hypochromia (MCH 20.2 ± 1.2 pg. The deletion encompasses the entire HBZ, HBM, HBA2, HBA1, and HBQ genes. The 5′ breakpoint is located upstream of HBZ, whereas the 3′ breakpoint lies upstream of LUC7L.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | East Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
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Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Waye, John S. | 2026-06-09 | First report. |
Created on 2026-06-17 12:25:22,
Last reviewed on (Show full history)
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