IthaID: 4148
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | αααα102 | HGVS Name: | NC_000016.10:g.79903_181947dup |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Identified as de novo mutation along with the IVS I-1 (G>T), in a male child presented with non-transfusion-dependent thalassemia, moderate anaemia (Hb 7.3 g/dL) and abnormal haematological indices (HbA2 3.7%, HbF 18.8%, RBC 3.6 10^12/L, MCV 68 fL, MCH 20.4 pg). The detected duplication spans approximately 102 kb and includes the entire α-globin gene cluster, the regulatory region HS-40, the NPRL3 gene and part of the MPG gene. The number of α globin genes is increased from four to six. The exact breakpoint was determined by long-range PCR after MLPA and Whole Exome CNV estimation.
External Links
No available links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Duplication |
|---|---|
| Ethnic Origin: | Malay |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Syahzuwan, Hassan | 2025-05-29 | First report. |