IthaID: 3822
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --227 | HGVS Name: | NC_000016.10:g.35880_(262740_268502)del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Found in a pregnant woman and her fetus. The deletion contains 11 genes, including the entire a-globin gene cluster (HBZ, HBM, HBA2, HBA1, and HBQ) and its regulatory region. The 5’ breakpoint includes the POLR3K gene while the 3’ breakpoint includes the FAM234A gene.
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: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Wang Y, Xiong Y, Liu C, Lu J, Wang J, Qin D, Liu L, Wu J, Zhao X, Fang L, Du L, Yin A, Characterisation of two unusual cases of haemoglobin Bart's hydrops foetalis caused by - and large novel α-globin gene cluster deletions., J Int Med Res, 49(2), 300060521993642, 2021
Created on 2021-07-16 09:54:00,
Last reviewed on (Show full history)
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