IthaID: 313

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: --MED II HGVS Name: NG_000006.1:g.10864_40864del30001
Hb Name: N/A Protein Info: N/A

External Links


Chromosome: 16
Locus: NG_000006.1
Locus Location: 10864
Size: 30.001 kb
Deletion involves: ζ, α2, α1


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

Other details

Type of Mutation: Deletion
Ethnic Origin: Mediterranean
Inheritance: Recessive
DNA Breakpoint Determined: Yes
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. Kutlar F, Gonzalez-Redondo JM, Kutlar A, Gurgey A, Altay C, Efremov GD, Kleman K, Huisman TH, The levels of zeta, gamma, and delta chains in patients with Hb H disease., Human genetics, 82(2), 179-86, 1989 PubMed
  2. Harteveld KL, Losekoot M, Fodde R, Giordano PC, Bernini LF, The involvement of Alu repeats in recombination events at the alpha-globin gene cluster: characterization of two alphazero-thalassaemia deletion breakpoints., Hum. Genet. , 99(4), 528-34, 1997 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.