IthaID: 2156


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Algerian HPFH deletion HGVS Name: NG_000007.3:g.57141_81002del; 81008delA
Hb Name: N/A Protein Info: deletion of 23860 nts from the δ gene to β gene

Also known as:

Comments: Found in combination with Hb C in a female presenting with a chronic normochromic and normocytic anaemia. Haemoglobin analysis revealed the presence of HbC (57%), HbF (41%) and an absence of HbA. The deletion spans approximately 23862 bp and removes both the β- and δ-globin genes with a nt A deletion just after the 3′-deletion breakpoint.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 57141 or 81008
Size: 23.862 kb or 1 bp
Deletion involves: δ, β

Other details

Type of Mutation: Deletion
Ethnic Origin: Algerian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: Yes

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
Created on 2013-09-28 19:04:51, Last reviewed on 2019-11-14 14:34:23 (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.