What is Juvenile Hemochromatosis

Juvenile Hemochromatosis is a rare genetic disorder characterized by excessive iron accumulation in the body. It primarily affects individuals during adolescence or early adulthood. Unlike the more common form of hemochromatosis, which typically appears later in life, juvenile hemochromatosis manifests at a younger age.

The condition is caused by mutations in specific genes involved in iron metabolism, leading to impaired regulation of iron absorption and storage. As a result, excessive iron builds up in various organs and tissues, including the liver, heart, pancreas, and endocrine glands.

Symptoms of juvenile hemochromatosis may include fatigue, weakness, joint pain, abdominal pain, and an enlarged liver or spleen. If left untreated, it can lead to serious complications such as liver cirrhosis, heart problems, diabetes, and hormonal imbalances.

Early diagnosis is crucial for managing the condition. Treatment involves regular therapeutic phlebotomy (blood removal) to reduce iron levels and prevent organ damage. Genetic counseling and testing are recommended for family members of affected individuals due to the hereditary nature of the disorder.