title: A pilot C282Y hemochromatosis screening in Italian newborns by TaqMan technology.
abstract: Hereditary hemochromatosis (HH) is a disorder of iron metabolism that leads to iron overload in middle age and can be caused by homozygosity for the C282Y mutation in the HFE gene. Preliminary studies have estimated the frequency of this mutation at 0.5-1% in Italy, but this has not been verified on a large sample. We analyzed 1,331 Italian newborns for the C282Y mutation in the HFE gene using dried blood spots (DBS) from the Neonatal Screening Center in Turin, Italy. The mutation was assessed using a semi-automatable 5'-nuclease assay (TaqMan technology). We detected 55 heterozygotes and no homozygotes in our sampling, resulting in an overall frequency of 2.1% +/- 0.6 for the C282Y allele. Differences in allele frequency were observed, and ranged from 2.7% +/- 1.3 in samples from Northern Italy, to 1.7% +/- 0.9 in samples from Central-Southern Italy. The low frequency of the at-risk genotype for iron overload suggests that genetic screening for HFE in Italy would not be cost effective. The present study, in addition to defining C282Y frequency, documents detection of the major HFE mutation on routine DBS samples from neonatal screening programs using a semi-automatable, rapid, reliable, and relatively inexpensive approach.
authors.affiliation: Dipartimento di Patologia Clinica, Ospedale Infantile Regina Margherita, Torino, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Restagno
authors.forename: A M
authors.initials: AM
authors.lastname: Gomez
authors.forename: L
authors.initials: L
authors.lastname: Sbaiz
authors.forename: M
authors.initials: M
authors.lastname: De Gobbi
authors.forename: A
authors.initials: A
authors.lastname: Roetto
authors.forename: E
authors.initials: E
authors.lastname: Bertino
authors.forename: C
authors.initials: C
authors.lastname: Fabris
authors.forename: G C
authors.initials: GC
authors.lastname: Fiorucci
authors.forename: P
authors.initials: P
authors.lastname: Fortina
authors.forename: C
authors.initials: C
authors.lastname: Camaschella
mesh_terms: D001483:Base Sequence; D017931:DNA Primers; D006580:Genetic Carrier Screening; D006680:HLA Antigens / Q000235:genetics; D006432:Hemochromatosis / Q000175:diagnosis* / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007558:Italy; D008565:Membrane Proteins; D009154:Mutation; D015997:Neonatal Screening / Q000379:methods*; D010865:Pilot Projects; D016133:Polymerase Chain Reaction / Q000379:methods*
chemical_list: D017931:DNA Primers; C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins