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

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 18:51:42, Last reviewed on 2019-11-14 10:47:58 (Show full history)

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