IthaID: 3270
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Chinese I (εγδβ)0 | HGVS Name: | NC_000011.10:g.5036736_5270337del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: The deletion spans 233.6 kb on the β-globin gene cluster, extending from the HBE1 gene to the olfactory receptor genes 3' to the HBB gene. (εγδβ)0-Thalassaemia was transmitted in an autosomal dominant manner with heterozygous deletion of genes across three generations. The deletion was also reported in a fetus that showed signs of developing anemia at 22 weeks of gestation. In total, three intrauterine transfusions were performed at weeks 23, 28, and 32. The baby was born at 38 weeks with no signs of anemia [PIMD: 39488721].
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | εγδβ-thalassaemia |
| Allele Phenotype: | (εGγAγδβ)0 |
| 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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Hui ASY, Au PKC, Ting YH, Kan ASY, Cheng YKY, Leung AWK, Chan KYK, Li CK, Tang MHY, Leung TY, First Report of a Novel Deletion Due to εγδβ-Thalassemia in a Chinese Family., Hemoglobin , 41(3), 175-179, 2017 PubMed
- van der Meij E, Smiers FJW, Koopmann TT, Krapels I, LePoole K, Lopriore E, Middeldorp JM, Ootjers CS, Scharnhorst V, Scheepers HCJ, Harteveld CL, Verweij EJTJ, Heterozygous Beta-Thalassaemia in Pregnancy: Two Rare Causes of Severe Fetal Anemia Requiring Intrauterine Blood Transfusions., Prenat Diagn, 2024 PubMed
Created on 2017-10-02 19:22:11,
Last reviewed on 2024-11-08 10:16:16 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2017-10-02 19:22:11 | The IthaGenes Curation Team | Created |
| 2 | 2021-03-17 11:10:06 | The IthaGenes Curation Team | Reviewed. HGVS name corected. Chromosome and locus location added. |
| 3 | 2024-11-08 10:13:57 | The IthaGenes Curation Team | Reviewed. Comment review and reference added. |
| 4 | 2024-11-08 10:16:16 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-12-12 10:33:52