IthaID: 2124



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Caucasian HPFH HGVS Name: NC_000011.10:g.5201455_5229279del;5223936_5223960ins25
Hb Name: N/A Protein Info: N/A

Also known as: 27825 bp deletion

Comments: The deletion was reported in six heterozygotes patients of Caucasian origin presented with normal hematologic indices with elevated HbF (>20%). Is a 27825 bp deletion with a 25 bp insertion whose breakpoints are very similar to the SEA HPFH deletion breakpoints. The 5’ breakpoint is localised, at position 5201455 and the 3’ breakpoint is localized at position 5229279, while the insertion 5’ and 3’ breakpoints are localised at the 5223936 and 5223960 position respectively (coordinates: GRCh38.p13, NC_000011.10).

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 68337
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: Yes

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 2020-03-26 12:08:32 (Show full history)

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