IthaID: 1502



Names and Sequences

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

Also known as: HPFH-4

External Links

Location

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

Phenotype

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

Other details

Type of Mutation: Deletion
Ethnic Origin: Italian
Inheritance: Recessive
DNA Breakpoint Determined: No
Detection Methods: MLPA

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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