IthaID: 2124



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Caucasian HPFH HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as: 27825 bp deletion

Comments: 27825 bp deletion + 25 bp insertion. Very similar to SEA HPFH deletion

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 27.825 kb
Deletion involves: 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: Caucasian
Inheritance: Recessive
DNA Breakpoint Determined: No
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Pissard S, Raclin V, Lacan P, Garcia C, Aguilar-Martinez P, Francina A, Joly P, Characterization of three new deletions in the β-globin gene cluster during a screening survey in two French urban areas., Clin. Chim. Acta , 415(1), 35-40, 2013 PubMed
Created on 2013-09-24 10:32:15, Last reviewed on 2015-12-07 12:18:42 (Show full history)

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