A pilot C282Y hemochromatosis screening in Italian newborns by TaqMan(TM) technology

G. Restagno, A. M. Gomez, L. Sbaiz, M. De Gobbi, A. Roetto, E. Bertino, C. Fabris, G. C. Fiorucci, P. Fortina, C. Camaschella

Research output: Contribution to journalArticle

27 Citations (Scopus)

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(TM) 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.

Original languageEnglish
Pages (from-to)177-181
Number of pages5
JournalGenetic Testing
Volume4
Issue number2
DOIs
Publication statusPublished - 2000

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Hemochromatosis
Italy
Newborn Infant
Technology
Neonatal Screening
Mutation
Iron Overload
Iron Metabolism Disorders
Homozygote
Genetic Testing
Mutation Rate
Heterozygote
Gene Frequency
Genes
Alleles
Genotype
Costs and Cost Analysis

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

A pilot C282Y hemochromatosis screening in Italian newborns by TaqMan(TM) technology. / Restagno, G.; Gomez, A. M.; Sbaiz, L.; De Gobbi, M.; Roetto, A.; Bertino, E.; Fabris, C.; Fiorucci, G. C.; Fortina, P.; Camaschella, C.

In: Genetic Testing, Vol. 4, No. 2, 2000, p. 177-181.

Research output: Contribution to journalArticle

Restagno, G, Gomez, AM, Sbaiz, L, De Gobbi, M, Roetto, A, Bertino, E, Fabris, C, Fiorucci, GC, Fortina, P & Camaschella, C 2000, 'A pilot C282Y hemochromatosis screening in Italian newborns by TaqMan(TM) technology', Genetic Testing, vol. 4, no. 2, pp. 177-181. https://doi.org/10.1089/10906570050114894
Restagno, G. ; Gomez, A. M. ; Sbaiz, L. ; De Gobbi, M. ; Roetto, A. ; Bertino, E. ; Fabris, C. ; Fiorucci, G. C. ; Fortina, P. ; Camaschella, C. / A pilot C282Y hemochromatosis screening in Italian newborns by TaqMan(TM) technology. In: Genetic Testing. 2000 ; Vol. 4, No. 2. pp. 177-181.
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