IthaID: 4082
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --LAMPHUN | HGVS Name: | NC_000016.10:g.158985_186051delinsCGGGAGGGA |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: | 27 kb deletion with 9 bp insertion (Lamphun deletion) |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The Lamphun deletion spans 27 kb on the α-globin gene locus and removes both functional α-globin genes, HBA2 and HBA1, as well as HBZP1, HBM, HBAP1, and HBQ. It was identified in combination with the heterozygous -α³.⁷ deletion [IthaID: 300] in a young male with HbH disease, as well as in the heterozygous state alongside a β-globin gene 3.5 kb deletion [IthaID: 3393], with Hb of 11.6 g/dL, MCV of 70.2 fL, and MCH of 22.9 pg. The deletion was characterized using a combination of MLPA, WGS, GAP-PCR, and direct sequencing.
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: | Thai |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Khamphikham P, Tepakhan W, Tongjai S, Jan-Ngam V, Laonan A, Thimsin W, Boontha S, Santiyos S, Pornprasert S, Identification of a novel and rare α -thalassemia 27.0 kb deletion with 9 bp insertion (Lamphun deletion; -- ) in a Thai family., Int J Lab Hematol, 2023
Created on 2023-11-22 10:40:31,
Last reviewed on 2025-03-14 07:21:04 (Show full history)
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