IthaID: 2124



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Caucasian HPFH HGVS Name: NC_000011.10:g.5201455_5229279delins5223936_5223960
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 slightly reduced hematologic indices (MCV 77 fL and MCH 25 pg), and elevated levels of HbA2 (3.9%) and HbF (>20%). Is a 27825 bp deletion with a 25 bp insertion, affecting only the entire β-globin gene, whose breakpoints are very similar to the South East Asian (SEA) deletion breakpoints [IthaID: 2126]. Position of the deletion indicate that the Caucasian deletion is more akin to a β-thal phenotype with raised HbF, because of the deletion of γ-silencing element, HS-1 site, at the 3’ breakpoint.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 68337
Size: 27.825 kb
Deletion involves: β

Other details

Type of Mutation: Deletion
Ethnic Origin: Caucasian
Molecular mechanism: N/A
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 2022-02-07 11:57:11 (Show full history)

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