The hemochromatosis gene HFE was discovered in 1996, more than a century after clinical
and pathologic manifestations of hemochromatosis were reported. Linked to the major …

Mutations in the HFE (hemochromatosis) gene cause hereditary hemochromatosis, an iron
overload disorder that is hallmarked by excessive accumulation of iron in parenchymal …

Cold agglutinin disease (CAD) is characterized by immunoglobulin M (IgM)–mediated
hemagglutination and robust complement activation leading to intravascular hemolysis and …

Iron disorders of genetic origin are mainly composed of iron overload diseases, the most
frequent being HFE-related hemochromatosis. Hepcidin deficiency underlies iron overload …

Different types of human gene mutation may vary in size, from structural variants (SVs) to
single base‐pair substitutions, but what they all have in common is that their nature, size and …

Haemochromatosis is predominantly associated with the HFE p. C282Y homozygous
genotype, which is present in approximately 1 in 200 people of Northern European origin …

Methods routinely used for investigating the molecular basis of antithrombin (AT) deficiency
do not detect large SERPINC1 rearrangements. Between 2000 and 2008, 86 probands …

Carlo Dufour, 1 Barbara Cappelli, 2 Michaela Calvillo, 1 Francesca Fioredda, 1 Rossella
Tonelli, 3 and Roberto Crocchiolo4 1Hematology Unit, G. Gaslini Children's Hospital …

Type 1 hemochromatosis is generally due to homozygous p. C282Y mutation in HFE. 1, 2
We report the case of a young woman with a classical hemochromatosis phenotype due to a …

Erythropoietic protoporphyria (EPP), an autosomal dominant disease, is caused by partial
deficiency of ferrochelatase (FECH), which catalyzes the terminal step of heme biosynthesis …