IthaID: 2155


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: French West-Indies deletion/insertion HGVS Name: NG_000007.3:g.57155_80887delinsCAGCAGGAAAGTGAGAAG
Hb Name: N/A Protein Info: deletion of 23728 nts from the δ gene to β gene

Also known as: French West-Indies HPFH deletion

Comments: Found in a heterozygous state in a female with a normal haematological phenotype. The deletion spans approximately 23730 bp and removes both the β- and δ-globin genes with insertion of 18 nucleotides (CAGCAGGAAAGTGAGAAG) in the deletion junction. Found in combination with HbS in the mother (hence, hemizygous), presenting a very similar hematological phenotype except for the presence of HbS.

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: 57155
Size: 23.733 kb
Deletion involves: δ, β

Other details

Type of Mutation: Deletion
Ethnic Origin: French West-Indies
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 19:01:08, Last reviewed on 2019-11-14 11:26:14 (Show full history)

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