IthaID: 1503


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Italian 2, Sicilian HGVS Name: NC_000011.10:g.59893_72818del
Hb Name: N/A Protein Info: N/A

Also known as: HPFH-5

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: 12.91 kb
Deletion involves: δ, β

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Camaschella C, Serra A, Gottardi E, Alfarano A, Revello D, Mazza U, Saglio G, A new hereditary persistence of fetal hemoglobin deletion has the breakpoint within the 3' beta-globin gene enhancer., Blood, 75(4), 1000-5, 1990
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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