JUVENILE HEMOCHROMATOSIS

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