IthaID: 1533
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | 49.3 kb Gγ(Aγδβ)0 Asian del | HGVS Name: | NC_000011.10:g.5201244_5250542del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
Comments: Detected in seven unrelated Canadian families of Asian Indian ancestry. The adult carriers had mild microcytosis and hypochromia with markedly elevated levels of Hb F. Homozygotes had mild microcytosis without significant anaemia.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | δβ-thalassaemia |
| Allele Phenotype: | Gγ(Aγδβ)0 |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | Asian, Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Waye JS, Walker L, Kyriakopoulou LG, Potter MA, Eng B, Characterisation of a novel 49.3 kb Ggamma(Agamma delta beta)(0) -thalassaemia deletion in seven families of Asian descent., British journal of haematology, 138(1), 125-6, 2007
- Mayuranathan T, Rayabaram J, Das R, Arora N, Edison ES, Chandy M, Srivastava A, Velayudhan SR, Identification of rare and novel deletions that cause (δβ)(0) -thalassaemia and hereditary persistence of foetal haemoglobin in Indian population., Eur. J. Haematol. , 92(6), 514-20, 2014
Created on 2010-06-16 16:13:17,
Last reviewed on 2019-09-26 16:24:32 (Show full history)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.