The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients.

doi:10.1053/jhep.1996.v24.pm0008707280

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Article

The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients.

Hepatology (Baltimore, Md.) - 1 Jul 1996

Piperno A, Arosio C, Fargion S, Roetto A, Nicoli C, Girelli D, Sbaiz L, Gasparini P, Boari G, Sampietro M, Camaschella C

Abstract excerpt

We evaluate the relation between genotype and phenotype in 47 Italian male patients with homozygous genetic hemochromatosis (GH). Phenotype evaluation was based on the ratio of amount of iron removed (IR) by phlebotomy and age (IR/age). Patients were divided in two classes of phenotype expression...

Topics

Adult
Aged
Chromosome Mapping
Diabetes Mellitus, Type 1
Diabetes Mellitus, Type 2
Ferritins
Genes, MHC Class I
Genetic Carrier Screening
Genetic Variation
HLA-A Antigens
HLA-B Antigens

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Haplotypes

Hemochromatosis

Homozygote

Humans

Iron

Italy

Liver

Source

Open in PubMed

Identifiers

PMID: 8707280
DOI: 10.1053/jhep.1996.v24.pm0008707280

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8707280-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients.PMID 8707280Read ↗

Heterogeneity of hemochromatosis in Italy.Semantic proximity Read ↗

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Haplotype analysis in Australian hemochromatosis patients: evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis.Semantic proximity Read ↗

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