IthaID: 2239

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: --CAMPANIA HGVS Name: NC_000016.10:g.(8635_8924)_(39835_40133)del
Hb Name: N/A Protein Info: N/A

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: N/A
Deletion involves: ζ, α2, α1

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Sessa R, Puzone S, Ammirabile M, Piscopo C, Pagano L, Colucci S, Izzo P, Grosso M, Identification and molecular characterization of the --CAMPANIA deletion, a novel alpha (0) -thalassemic defect, in two unrelated Italian families [corrected]., Am. J. Hematol. , 85(2), 143-4, 2010
Created on 2013-10-03 15:45:04, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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