Hemochromatosis is predominantly associated with the HFE p. C282Y homozygous
genotype, which is carried by approximately 1 person in 200 in Northern European …

Hemochromatosis is predominantly associated with the HFE p. C282Y homozygous
genotype, which is carried by approximately 1 person in 200 in Northern European …

Introduction Hereditary hemochromatosis (HH) is the most common known recessive
hereditary disease in people of northern European descent. HH is most commonly caused …

Introduction: Alterations in the HFE protein compromise its function and are likely to induce
the development of hereditary HEMOCHROMATOSIS (HH). Although most HH subjects …

Hereditary hemochromatosis (HH) is an autosomal recessive disease characterized by iron
accumulation in several organs, followed by organ damage and failure. The C282Y mutation …

A number of patients with genetic hemochromatosis do not present with the C845G= A
(C282Y) nor C187C= G (H63D) mutations. Thus, efforts have been made to search for other …

The human HFE gene was identified in 1996 as the gene whose mutations are responsible
for hereditary hemochromatosis in most patients. Expression analysis by Northern blot …

In the present paper, we describe a patient who is a compound heterozygote for three
mutations in the HFE gene: C282Y, H63D, and E168Q. The patient's mother carries two …

The gene responsible for hemochromatosis (HFE) has been identified on the short arm of
chromosome 6, 4.5 Mb telomeric to HLA-A. A major mutation C282Y is closely correlated …

In Caucasians, from 4 to 35% of hereditary hemochromatosis (HH) patients carry a least one
chromosome without a common assigned HFE mutation (ie, C282Y, H63D, and S65C). We …