IthaID: 288



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Black, British HGVS Name: NG_000007.3:g.70060_71452del1393
Hb Name: N/A Protein Info: N/A

Also known as: 1393 bp deletion

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70060
Size: 1.393 kb
Deletion involves: β

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: Deletion
Ethnic Origin: African-American, British
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. Padanilam BJ, Felice AE, Huisman TH, Partial deletion of the 5' beta-globin gene region causes beta zero-thalassemia in members of an American black family., Blood, 64(4), 941-4, 1984 PubMed
  2. Anand R, Boehm CD, Kazazian HH, Vanin EF, Molecular characterization of a beta zero-thalassemia resulting from a 1.4 kilobase deletion., Blood, 72(2), 636-41, 1988 PubMed
  3. Gonzalez-Redondo JM, Kattamis C, Huisman TH, Characterization of three types of beta zero-thalassemia resulting from a partial deletion of the beta-globin gene., Hemoglobin, 13(4), 377-92, 1989 PubMed
  4. Thein SL, Hesketh C, Brown JM, Anstey AV, Weatherall DJ, Molecular characterization of a high A2 beta thalassemia by direct sequencing of single strand enriched amplified genomic DNA., Blood, 73(4), 924-30, 1989 PubMed
  5. Waye JS, Chui DH, Eng B, Cai SP, Coleman MB, Adams JG, Steinberg MH, Hb S/beta zero-thalassemia due to the approximately 1.4-kb deletion is associated with a relatively mild phenotype., American journal of hematology, 38(2), 108-12, 1991 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.