Non-HFE haemochromatosis

Non HFE related hereditary haemochromatosis.

Hereditary hemochromatosis (HH) is manifested as iron overload in different organs due to homozygosity of a single autosomal mutation. Two different mutations C282Y and H63D in the HFE gene have been associated with hereditary hemochromatosis cases. This disease is seen in northern european populations, but in India it is a rare disease. We report a young male with severe abnormalty of liver fu...

Testing families with HFE-related hereditary haemochromatosis.

HFE-related hereditary haemochromatosis is the most common autosomal recessive disorder in the Caucasian population. In 1996 the responsible gene (called HFE) was identified. Two mutations (C282Y and H63D) are considered most important and occur frequently in the Caucasian population. We describe a family of an affected proband in which first- and second-degree relatives were tested phenotypica...

Haemochromatosis after the discovery of HFE ("HLA-H")

HFE mutations in patients with hereditary haemochromatosis in Sweden.

OBJECTIVE To determine the frequency of mutations (C282Y and H63D) in a newly identified gene HFE in patients with hereditary haemochromatosis (HH) in Sweden. DESIGN Molecular genetic analyses of the HFE gene (polymerase chain reaction (PCR) followed by enzyme restriction) were performed in genomic DNA from unrelated patients with a clinical diagnosis of HH and in healthy subjects. SETTINGS...

Non-HFE hemochromatosis

Hereditary hemochromatosis (HH) is an autosomal recessive disorder classically related to HFE mutations. However, since 1996, it is known that HFE mutations explain about 80% of HH cases, with the remaining around 20% denominated non-HFE hemochromatosis. Nowadays, four main genes are implicated in the pathophysiology of clinical syndromes classified as non-HFE hemochromatosis: hemojuvelin (HJV,...