Rehan Haider, Asghar Mehdi, Anjum Zehra, Geetha Kumari Das and Zameer Ahmed
Hemochromatosis is a metabolic liver disease characterized by excessive iron absorption and deposition in various organs, particularly the liver. This genetic disorder disrupts the body›s ability to regulate iron levels, leading to a gradual buildup of iron in tissues over time. Although the condition can manifest in different forms, the most common type is hereditary hemochromatosis (HH), primarily caused by mutations in the HFE gene. In individuals with HH, the increased absorption of dietary iron overwhelms the body›s capacity to excrete excess iron, resulting in its accumulation within hepatocytes and other tissues. This iron overload can have detrimental consequences for the liver, leading to liver damage, fibrosis, cirrhosis, and even hepatocellular carcinoma if left untreated. Hemochromatosis often presents with non-specific symptoms such as fatigue, joint pain, and abdominal discomfort, making early diagnosis challenging. Clinical suspicion, genetic testing, and evaluation of iron markers in the blood, such as serum ferritin and transferrin saturation, are essential for the timely identification of the disease. Treatment for hemochromatosis primarily involves therapeutic phlebotomy, a process where excess iron is removed by periodically drawing blood. Regular phlebotomy sessions help reduce iron levels and prevent further organ damage. Patients may require ongoing maintenance therapy to manage iron levels effectively. Despite its hereditary nature, early diagnosis and intervention can lead to a favorable prognosis for individuals with hemochromatosis. Lifelong monitoring and management are crucial to prevent complications and maintain overall health. Genetic counseling is also recommended for affected individuals and their families to assess the risk of inheritance and facilitate early detection of at-risk relatives.