Juvenile hereditary haemochromatosis, Type 2 (Q97541)

Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis, a group of diseases characterised by excessive tissue iron deposition of genetic origin. This juvenile form of hemochromatosis has the classical features of HH but is also characterised by severe cardiomyopathy and hypogonadism. Arthropathy, hepatic fibrosis, glucose intolerance, and increased skin pigmentation are frequent.