IthaID: 334



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: (αα)IJ HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Comments: de novo deletion

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 35 kb
Deletion involves: HS40

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Deletion
Ethnic Origin: Unknown
Inheritance: Recessive
DNA Breakpoint Determined: No
Detection Methods: MLPA

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Liebhaber SA, Griese EU, Weiss I, Cash FE, Ayyub H, Higgs DR, Horst J, Inactivation of human alpha-globin gene expression by a de novo deletion located upstream of the alpha-globin gene cluster., Proceedings of the National Academy of Sciences of the United States of America, 87(23), 9431-5, 1990 PubMed
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.

Please publish modules in offcanvas position.