IthaID: 3214
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 44.6 kb deletion | HGVS Name: | NC_000016.10:g.144215_188841del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: The deletion spans 44.6 kb on the α-globin gene cluster removing both of the duplicated α-globin genes, while the upstream regulatory element HS-40 is left intact. Breakpoints were localized to positions 193637-199336 at the 5' end, and positions 237170-256305 at the 3’ end (hg19) using MLPA. Deletion breakpoints were determined by array comparative genomic hybridization.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
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
- Wang Y, Liu C, Zhang L, Du L, Zhou W, Huang S, Liu L, Yin A, Identification of a novel 44.6-kb deletion causing α(0) -thalassemia in southern China., Int J Lab Hematol , 2017
Created on 2017-03-28 16:19:33,
Last reviewed on 2023-02-07 11:58:11 (Show full history)
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