Juvenile haemochromatosis (JH) is an autosomal recessive disorder which leads to early-onset, severe iron overload. The disease affects both sexes equally. Iron parameters and tissue iron distribution are similar to those in middle-life haemochromatosis (which is linked to the HFE gene). Endocrine manifestations, especially hypogonadism, and heart failure are the most prominent clinical features. Liver involvement, although present, is clinically less relevant. Genetic evidence indicates that JH is a disorder distinct from HFE-linked disease. Patients do not have mutations in the HFE gene, and the study of selected families has excluded a linkage to the interval of chromosome 6p where the HFE gene resides. The distinction between the two disorders raises the possibility that the different clinical presentation of JH is not only age-related but probably depends on a different biochemical defect. Early diagnosis of JH is important to avoid cardiac complications which can lead to premature death. As with HFE-linked disease, JH is responsive to phlebotomies.