IthaID: 2156



Names and Sequences

Functionality: Globin gene causative mutation
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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 57141 or 81008
Size: 23.862 kb or 1 bp
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: Algerian
Inheritance: Recessive
DNA Breakpoint Determined: Yes

Sequence Viewer

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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 19:04:51, Last reviewed on 2019-11-14 14:34:23 (Show full history)

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