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.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


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

In silico pathogenicity prediction

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 19:01:08, Last reviewed on 2019-11-14 11:26:14 (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.