IthaID: 146
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 41 (-C) | HGVS Name: | HBB:c.126delC |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
TGGTCTACCCTTGGACCCAGAGGTT [-/C] TTTGAGTCCTTTGGGGATCTGTCCA (Strand: -)
Also known as:
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70850 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Thai |
| Molecular mechanism: | Altered heme pocket |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
Frequencies
Publications / Origin
- Fucharoen S, Fucharoen G, Laosombat V, Fukumaki Y, Double heterozygosity of the beta-Malay and a novel beta-thalassemia gene in a Thai patient., American journal of hematology, 38(2), 142-4, 1991
Created on 2010-06-16 16:13:15,
Last reviewed on 2013-10-15 17:28:32 (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.