IthaID: 1502



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Italian 1 HGVS Name: N/A
Hb Name: N/A Protein Info: N/A

Also known as: HPFH-4

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

Hemoglobinopathy Group: HPFH
Hemoglobinopathy Subgroup: HPFH
Allele Phenotype:GγAγ(δβ)0
HPFH
Associated Phenotypes: Hb F levels [HP:0011904] [OMIM:141749]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: 40 kb
Deletion involves: δ, β

Other details

Type of Mutation: Deletion
Ethnic Origin: Italian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Breakpoint Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Saglio G, Camaschella C, Serra A, Bertero T, Rege Cambrin G, Guerrasio A, Mazza U, Izzo P, Terragni F, Giglioni B, Italian type of deletional hereditary persistence of fetal hemoglobin., Blood, 68(3), 646-51, 1986 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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