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
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
- 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
Created on 2017-10-02 19:22:11,
Last reviewed on 2024-11-08 10:16:16 (Show full history)
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