Prevalence of HFE mutations in upper Northern Italy: Study of 1132 unrelated blood donors

R. Mariani, A. Salvioni, C. Corengia, N. Erba, C. Lanzafame, V. De Micheli, V. Baldini, C. Arosio, L. Fossati, P. Trombini, C. Oberkanins, Alberto Piperno

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

Background. In the Italian general population, prevalence of C282Y is lower than in Northern European countries.We hypothesised a higher prevalence of C282Y in Northern than in Central and Southern Italy. We previously identified a nonsense mutation (W169X) in haemochromatosis probands originating from a Northern Italian region (Brianza). Aim. To define the prevalence of HFE mutations in that region. Subjects and methods. A total of 1132 unrelated blood donors from the Blood Banks of Monza and Merate were investigated for C282Y, H63D, S65C and W169X mutations by PCR-restriction assays. A total of 300 were also tested for rare HFE and TFR2 mutations by reverse-hybridization test strips. Results. Two C282Y homozygotes, eight C282Y/H63D compound heterozygotes, 27 H63D homozygotes and one W169X heterozygote were found. The allele frequencies of C282Y, H63D, S65C, and W169X were 3.2, 13.4, 1.3, and 0.04%, respectively. Conclusions. Our results confirm the existence of a decreasing frequency of C282Y allele from upper to lower Northern Italy. This difference is probably related to the larger Celtic component of upper Northern Italian populations in which screening studies for haemochromatosis may even be cost effective. W169X, due to its severity, should be looked for in all haemochromatosis patients of Northern ancestry with an incomplete HFE genotype.

Original languageEnglish
Pages (from-to)479-481
Number of pages3
JournalDigestive and Liver Disease
Volume35
Issue number7
DOIs
Publication statusPublished - Jul 2003

Fingerprint

Unrelated Donors
Hemochromatosis
Blood Donors
Italy
Homozygote
Heterozygote
Gene Frequency
Mutation
Blood Banks
Nonsense Codon
Population
Genotype
Costs and Cost Analysis
Polymerase Chain Reaction

Keywords

  • Blood donors
  • C282Y
  • Haemochromatosis
  • HFE
  • S65C
  • W169X

ASJC Scopus subject areas

  • Gastroenterology

Cite this

Prevalence of HFE mutations in upper Northern Italy : Study of 1132 unrelated blood donors. / Mariani, R.; Salvioni, A.; Corengia, C.; Erba, N.; Lanzafame, C.; De Micheli, V.; Baldini, V.; Arosio, C.; Fossati, L.; Trombini, P.; Oberkanins, C.; Piperno, Alberto.

In: Digestive and Liver Disease, Vol. 35, No. 7, 07.2003, p. 479-481.

Research output: Contribution to journalArticle

Mariani, R, Salvioni, A, Corengia, C, Erba, N, Lanzafame, C, De Micheli, V, Baldini, V, Arosio, C, Fossati, L, Trombini, P, Oberkanins, C & Piperno, A 2003, 'Prevalence of HFE mutations in upper Northern Italy: Study of 1132 unrelated blood donors', Digestive and Liver Disease, vol. 35, no. 7, pp. 479-481. https://doi.org/10.1016/S1590-8658(03)00220-2
Mariani, R. ; Salvioni, A. ; Corengia, C. ; Erba, N. ; Lanzafame, C. ; De Micheli, V. ; Baldini, V. ; Arosio, C. ; Fossati, L. ; Trombini, P. ; Oberkanins, C. ; Piperno, Alberto. / Prevalence of HFE mutations in upper Northern Italy : Study of 1132 unrelated blood donors. In: Digestive and Liver Disease. 2003 ; Vol. 35, No. 7. pp. 479-481.
@article{ee329d56244e4fcfa5b38b11009d326d,
title = "Prevalence of HFE mutations in upper Northern Italy: Study of 1132 unrelated blood donors",
abstract = "Background. In the Italian general population, prevalence of C282Y is lower than in Northern European countries.We hypothesised a higher prevalence of C282Y in Northern than in Central and Southern Italy. We previously identified a nonsense mutation (W169X) in haemochromatosis probands originating from a Northern Italian region (Brianza). Aim. To define the prevalence of HFE mutations in that region. Subjects and methods. A total of 1132 unrelated blood donors from the Blood Banks of Monza and Merate were investigated for C282Y, H63D, S65C and W169X mutations by PCR-restriction assays. A total of 300 were also tested for rare HFE and TFR2 mutations by reverse-hybridization test strips. Results. Two C282Y homozygotes, eight C282Y/H63D compound heterozygotes, 27 H63D homozygotes and one W169X heterozygote were found. The allele frequencies of C282Y, H63D, S65C, and W169X were 3.2, 13.4, 1.3, and 0.04{\%}, respectively. Conclusions. Our results confirm the existence of a decreasing frequency of C282Y allele from upper to lower Northern Italy. This difference is probably related to the larger Celtic component of upper Northern Italian populations in which screening studies for haemochromatosis may even be cost effective. W169X, due to its severity, should be looked for in all haemochromatosis patients of Northern ancestry with an incomplete HFE genotype.",
keywords = "Blood donors, C282Y, Haemochromatosis, HFE, S65C, W169X",
author = "R. Mariani and A. Salvioni and C. Corengia and N. Erba and C. Lanzafame and {De Micheli}, V. and V. Baldini and C. Arosio and L. Fossati and P. Trombini and C. Oberkanins and Alberto Piperno",
year = "2003",
month = "7",
doi = "10.1016/S1590-8658(03)00220-2",
language = "English",
volume = "35",
pages = "479--481",
journal = "Digestive and Liver Disease",
issn = "1590-8658",
publisher = "Elsevier B.V.",
number = "7",

}

TY - JOUR

T1 - Prevalence of HFE mutations in upper Northern Italy

T2 - Study of 1132 unrelated blood donors

AU - Mariani, R.

AU - Salvioni, A.

AU - Corengia, C.

AU - Erba, N.

AU - Lanzafame, C.

AU - De Micheli, V.

AU - Baldini, V.

AU - Arosio, C.

AU - Fossati, L.

AU - Trombini, P.

AU - Oberkanins, C.

AU - Piperno, Alberto

PY - 2003/7

Y1 - 2003/7

N2 - Background. In the Italian general population, prevalence of C282Y is lower than in Northern European countries.We hypothesised a higher prevalence of C282Y in Northern than in Central and Southern Italy. We previously identified a nonsense mutation (W169X) in haemochromatosis probands originating from a Northern Italian region (Brianza). Aim. To define the prevalence of HFE mutations in that region. Subjects and methods. A total of 1132 unrelated blood donors from the Blood Banks of Monza and Merate were investigated for C282Y, H63D, S65C and W169X mutations by PCR-restriction assays. A total of 300 were also tested for rare HFE and TFR2 mutations by reverse-hybridization test strips. Results. Two C282Y homozygotes, eight C282Y/H63D compound heterozygotes, 27 H63D homozygotes and one W169X heterozygote were found. The allele frequencies of C282Y, H63D, S65C, and W169X were 3.2, 13.4, 1.3, and 0.04%, respectively. Conclusions. Our results confirm the existence of a decreasing frequency of C282Y allele from upper to lower Northern Italy. This difference is probably related to the larger Celtic component of upper Northern Italian populations in which screening studies for haemochromatosis may even be cost effective. W169X, due to its severity, should be looked for in all haemochromatosis patients of Northern ancestry with an incomplete HFE genotype.

AB - Background. In the Italian general population, prevalence of C282Y is lower than in Northern European countries.We hypothesised a higher prevalence of C282Y in Northern than in Central and Southern Italy. We previously identified a nonsense mutation (W169X) in haemochromatosis probands originating from a Northern Italian region (Brianza). Aim. To define the prevalence of HFE mutations in that region. Subjects and methods. A total of 1132 unrelated blood donors from the Blood Banks of Monza and Merate were investigated for C282Y, H63D, S65C and W169X mutations by PCR-restriction assays. A total of 300 were also tested for rare HFE and TFR2 mutations by reverse-hybridization test strips. Results. Two C282Y homozygotes, eight C282Y/H63D compound heterozygotes, 27 H63D homozygotes and one W169X heterozygote were found. The allele frequencies of C282Y, H63D, S65C, and W169X were 3.2, 13.4, 1.3, and 0.04%, respectively. Conclusions. Our results confirm the existence of a decreasing frequency of C282Y allele from upper to lower Northern Italy. This difference is probably related to the larger Celtic component of upper Northern Italian populations in which screening studies for haemochromatosis may even be cost effective. W169X, due to its severity, should be looked for in all haemochromatosis patients of Northern ancestry with an incomplete HFE genotype.

KW - Blood donors

KW - C282Y

KW - Haemochromatosis

KW - HFE

KW - S65C

KW - W169X

UR - http://www.scopus.com/inward/record.url?scp=0242336624&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0242336624&partnerID=8YFLogxK

U2 - 10.1016/S1590-8658(03)00220-2

DO - 10.1016/S1590-8658(03)00220-2

M3 - Article

C2 - 12870733

AN - SCOPUS:0242336624

VL - 35

SP - 479

EP - 481

JO - Digestive and Liver Disease

JF - Digestive and Liver Disease

SN - 1590-8658

IS - 7

ER -