IthaID: 2154



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: French deletion/insertion HGVS Name: NG_000007.3:g.[61399_61400insC; 61402_81144del]
Hb Name: N/A Protein Info: deletion of 19734 nts from the δ gene to β gene

Also known as: French HPFH deletion

Comments: Found in a heterozygous state in a Caucasian male with a normal haematological phenotype. The deletion spans approximately 19743 bp and removes both the β- and δ-globin genes with insertion of a nt C just before the 5'-deletion breakpoint.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 61402
Size: 19.743 kb
Deletion involves: δ, β

Phenotype

Hemoglobinopathy Group: HPFH
Hemoglobinopathy Subgroup: HPFH
Allele Phenotype:HPFH
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]

Other details

Type of Mutation: Deletion
Ethnic Origin: French
Inheritance: Recessive
DNA Breakpoint Determined: Yes

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. Joly P, Lacan P, Garcia C, Couprie N, Francina A, Identification and molecular characterization of four new large deletions in the beta-globin gene cluster., Blood Cells Mol. Dis. , 43(1), 53-7, 2009 PubMed
Created on 2013-09-28 18:51:42, Last reviewed on 2019-11-14 10:47:58 (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.