IthaID: 2245
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | (αα)MM | HGVS Name: | NC_000016.10:g.(?_53322)_(141396_143702)del |
| Hb Name: | N/A | Protein Info: | N/A |
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α0 |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | N/A |
| Size: | N/A |
| Deletion involves: | HS40 |
Other details
| Type of Mutation: | Deletion |
|---|---|
| Ethnic Origin: | South European, Portuguese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Breakpoint Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Romao L, Osorio-Almeida L, Higgs DR, Lavinha J, Liebhaber SA, Alpha-thalassemia resulting from deletion of regulatory sequences far upstream of the alpha-globin structural genes., Blood , 78(6), 1589-95, 1991
- Horsley SW, Daniels RJ, Anguita E, Raynham HA, Peden JF, Villegas A, Vickers MA, Green S, Waye JS, Chui DH, Ayyub H, MacCarthy AB, Buckle VJ, Gibbons RJ, Kearney L, Higgs DR, Monosomy for the most telomeric, gene-rich region of the short arm of human chromosome 16 causes minimal phenotypic effects., Eur. J. Hum. Genet. , 9(3), 217-25, 2001
- Ferrão J, Silva M, Gonçalves L, Gomes S, Loureiro P, Coelho A, Miranda A, Seuanes F, Reis AB, Pina F, Maia R, Kjöllerström P, Monteiro E, Lacerda JF, Lavinha J, Gonçalves J, Faustino P, Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia., Ann. Hematol. , 96(11), 1921-1929, 2017
Created on 2013-10-03 16:37:27,
Last reviewed on 2017-11-08 19:49:05 (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.