IthaID: 3408
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | --60.2 | HGVS Name: | NC_000016.10:g.147589_207883del |
| 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 approximately 60.2 kb on the α-globin gene cluster. The 5' breakpoint is located upstream of the HBZ gene and the 3' breakpoint is within the LUC7L gene. The deletion removes the entire HBZ, HBM, HBA2, HBA1, and HBQ genes. The deletion is the result of Alu-mediated homologous recombination. The proband was heterozygous for the deletion (Hb:123 g/L, MCV: 73.1 fL, MCH: 21.9 pg, HbF: 0.2%, and HbA2: 2.6%). The 60.2 kb deletion found in compound heterozygosity with -α3.7 [IthaID: 300] in her son, leading to Hb H disease without the requirement for blood transfusions.
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
Sequence Viewer
Publications / Origin
- Li Z, Shang X, Luo S, Zhu F, Wei X, Zhou W, Ye Y, Yan T, Cai R, Xu X, Characterization of two novel Alu element-mediated α-globin gene cluster deletions causing α-thalassemia by targeted next-generation sequencing., Mol. Genet. Genomics, 295(2), 505-514, 2020 PubMed
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Li, Li Zhiming | 2019-04-14 | First report. |