Haemochromatosis is a hereditary disorder characterized by excessive absorption and accumulation of iron in the body. It is a genetic condition that affects the way the body processes iron, leading to a buildup of iron within various organs and tissues, such as the liver, heart, joints, and pancreas.
Typically, the body regulates iron absorption to meet its needs, but individuals with haemochromatosis absorb more iron than necessary, resulting in excess iron deposition. This excess iron is then stored in organs, which can lead to long-term damage if left untreated. It primarily affects Caucasian individuals of northern European descent.
Symptoms of haemochromatosis can manifest differently among individuals, and some may experience no symptoms at all. However, common symptoms include fatigue, joint pain, abdominal pain, weakness, and unexplained weight loss. As the disorder progresses, complications may arise, such as liver disease, diabetes, irregular heart rhythms, and skin bronzing.
Diagnosis of haemochromatosis involves blood tests to measure iron levels and genetic testing to identify specific mutations associated with the disorder. Treatment aims to reduce the iron levels in the body by periodically removing blood (phlebotomy) or through chelation therapy, which involves medications that bind excess iron for elimination.
Early detection and treatment can effectively manage haemochromatosis and prevent complications. Therefore, regular screenings for family members of affected individuals and maintaining a healthy diet with controlled iron intake are essential preventive measures.
