Heterogeneity of hemochromatosis in Italy
Open accessAbstract
Background & aims Patients with hemochromatosis show variable phenotype expression. We evaluated the frequency of hemochromatosis gene (HFE) mutations and the contribution of HFE genotype, ancestral haplotype, ethnic background, and additional factors (alcohol intake, hepatitis viruses, and beta-thalassemia trait) to the severity of iron overload in a large series of Italian patients with a hemochromatosis phenotype.Methods HFE genotype was studied in 188 patients. Phenotype evaluation was available in 153 men and 20 women and was based mainly on iron removed. HFE genotype was determined by a polymerase chain reaction restriction assay and ancestral haplotype through D6S265 and D6S105 microsatellite analysis.Results The frequency of C282Y homozygotes was 64%, with a decreasing gradient from north to south. C282Y homozygotes showed more severe iron overload than the other HFE genotypes. In the same group, ancestral haplotype was associated with a more severe phenotype. Additional factors may favor the development of a relatively mild hemochromatosis phenotype in patients nonhomozygous for the C282Y mutation.Conclusions Hemochromatosis in Italy is a nonhomogenous disorder in which genetic and acquired factors are involved. In patients with a single or no HFE mutation, further studies will enable a differentiation between true genetic disorders and interactions between genetic and acquired factors.
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References 37 · Cited by 235
Research works printed but not linked: 3
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- Authors
- Piperno, A., Sampietro, M., Pietrangelo, A., Arosio, C., Lupica, L., Montosi, G., Vergani, A., Fraquelli, M., Girelli, D., & Pasquero, P.
- Affiliations
- University of Milan (IT)
- University of Modena and Reggio Emilia (IT)
- Azienda Ospedaliera San Gerardo (IT)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- Venue
- Gastroenterology
- Publisher
- Elsevier BV
- Published
- 1998-05
- Volume
- 114
- Issue
- 5
- Pages
- 996-1002
- ISSN
- 0016-5085 (ISSN-L)
- OpenAlex
- W2098087474
- Semantic Scholar
- 30fdfcebe62ede57cc2fa6edfb11c72846d93c0e
- Cited by
- 235
- References
- 37
- Citations by year
- 2025: 1 · 2024: 2 · 2023: 2 · 2022: 1 · 2021: 4 · 2019: 2 · 2018: 3 · 2017: 5 · 2016: 5 · 2015: 3 · 2014: 2 · 2013: 6 · 2012: 5
- FWCI
- 17.10
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Gastroenterology (publishedVersion)
- PubMed (publishedVersion)
- BOA (University of Milano-Bicocca) (submittedVersion)
- IRIS UNIMORE (University of Modena and Reggio Emilia) (submittedVersion, cc-by)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion)
- Topics
- Health Sciences › Medicine › Hematology › Iron Metabolism and Disorders
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Health Sciences › Medicine › Genetics › Hemoglobinopathies and Related Disorders
- Keywords
- hereditary hemochromatosis, HFE gene mutations, C282Y mutation, iron overload, ancestral haplotypes, HFE genotype, disease heterogeneity, beta-thalassemia trait, alcohol consumption, hepatitis viruses, regional variation, Italian patients
- MeSH terms
- Adult, Aged, Female, Gene Frequency, Genotype, Haplotypes, Hemochromatosis, Humans, Italy, Male, Middle Aged, Mutation, Phenotype, Genetic Variation
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