Inherited Hfe–Unrelated Hemochromatosis in Italian Families
C Camaschella, S Fargion, M Sampietro, A Roetto… - Hepatology, 1999 - journals.lww.com
Hemochromatosis (HH) is usually caused by the homozygous state for C282Y mutation in
the HFE gene. A minority of iron loaded patients have no mutations in this gene. An
infrequent subset shows an early–onset aggressive disorder, denoted juvenile
hemochromatosis (JH), which has no linkage to 6p. In this report we describe six patients
from three unrelated Italian families, four men and two women, aged 21 to 44 with the typical
hemochromatosis phenotype, who are homozygous for the wild type allele at the HFE gene …
the HFE gene. A minority of iron loaded patients have no mutations in this gene. An
infrequent subset shows an early–onset aggressive disorder, denoted juvenile
hemochromatosis (JH), which has no linkage to 6p. In this report we describe six patients
from three unrelated Italian families, four men and two women, aged 21 to 44 with the typical
hemochromatosis phenotype, who are homozygous for the wild type allele at the HFE gene …