IthaID: 4062
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 285 kb deletion | HGVS Name: | N/A |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Large deletion of about 285 kb in size, extending from the WASH4P gene (telomeric region) in 5’ to a part of the AXIN1 gene in 3’. Removes the entire WASH4P gene, the α-globin gene cluster, and exons 5 to 10 of the AXIN1 gene. Found together with the -α3.7 deletion in trans in a proband with Hb H disease. The proband presented with scoliosis, likely a consequence of the genetic defect in AXIN1. The deletion associated with an α0-thalassemia phenotype and not the ATR-16 syndrome. Mother was heterozygous for the deletion.
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 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | French/Algerian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Joly P, Lacan P, Labalme A, Bonhomme E, Sanlaville D, Francina A, A novel telomeric (approximately 285 kb) α-thalassemia deletion leading to a phenotypically unusual HbH disease., Haematologica, 95(5), 850-1, 2010
Created on 2023-07-06 11:47:35,
Last reviewed on (Show full history)
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