juvenile hemochromatosis is a rare autosomal recessive disorder that typically occurs in the first to third decades of life. its symptoms are more acute and severe than classic hemochromatosis. we describe a 27-year-old man who was referred to the gastrointestinal clinic with a probable diagnosis of fatty liver and was finally diagnosed as having juvenile hemochromatosis. a review of the scient...

background hereditary hemochromatosis (hh) is a very rare disease in iran and reported cases are all negative for hfe mutation. we report a family affected by severe juvenile hemochromatosis (jh) with a detailed molecular study of the family members. methods we studied a pedigree with siblings affected by juvenile hh and followed them for 3 years. microsatellite and gene sequencing analysis was...

Juvenile hemochromatosis is a rare and severe form of hereditary hemochromatosis. We report the case of a 39-year-old female who presented with heart failure and cirrhosis from previously unrecognized juvenile hemochromatosis. This is the latest presentation described in the literature. An important clue to the diagnosis was a history of amenorrhea since the age of 20 that had never been invest...

Juvenile hemochromatosis is a rare autosomal recessive disorder that typically occurs in the first to third decades of life. Its symptoms are more acute and severe than classic hemochromatosis. We describe a 27-year-old man who was referred to the gastrointestinal clinic with a probable diagnosis of fatty liver and was finally diagnosed as having juvenile hemochromatosis. A review of the scient...

Juvenile hemochromatosis is a rare autosomal recessive disorder characterized by the early onset of severe iron overload. We report the occurrence of compound heterozygous mutations in hemojuvelin (HJV), including a termination codon, in a patient with juvenile hemochromatosis but no family history of iron disorders.

Hereditary hemochromatosis is an iron-overload disorder resulting from mutations in proteins presumed to be involved in the maintenance of iron homeostasis. Mutations in hemojuvelin (HJV) cause severe, early-onset juvenile hemochromatosis. The normal function of HJV is unknown. Juvenile hemochromatosis patients have decreased urinary levels of hepcidin, a peptide hormone that binds to the cellu...

Juvenile hemochromatosis is a severe form of hereditary iron overload. It can be caused by mutations in either hepcidin or hemojuvelin genes. In this study we identified the molecular basis of juvenile hemochromatosis in three Australian families and assessed the role of potential modifying genes in individuals carrying HFE mutations.

We report the case of a 7 years old girl with Juvenile Hemochromatosis, due to homozygous mutation of HJV, which had increased serum iron indices and liver iron overload in the absence of any clinical sign of disease. Oral iron chelation with low dose deferasirox showed good efficacy and no side effects. The oral iron chelator deferasirox could be a valid option for removing excess iron in earl...

During a screening program we identified a 5-year old girl with elevated iron parameters. The child was found to have a combination of a novel R176C mutation together with the G320V mutation in the juvenile hemochromatosis gene (HJV). The girl was also homozygous for the H63D mutation in HFE. The possibility of detecting juvenile hemochromatosis before the onset of clinical manifestations raise...