Iron Overload Disorders

Diagnosis and long-term management of iron overload disorders, including genetic haemochromatosis, with monitoring to prevent liver and systemic complications

Overview

Hyperferritinaemia and Haemochromatosis

Raised ferritin levels are common and do not always indicate iron overload. They may be related to inflammation, metabolic conditions, alcohol use, or liver disease. Haemochromatosis is a genetic condition that causes excess iron accumulation and can damage the liver if untreated.

What does a raised ferritin level mean?

Ferritin is a blood marker related to iron storage, but it is also affected by inflammation and liver injury. Raised ferritin levels are common and often do not indicate excess iron in the body. Common causes include fatty liver disease, alcohol use, metabolic conditions, and inflammatory states.

What is hereditary haemochromatosis?

Iron overload can result from repeated blood transfusions. Hereditary haemochromatosis is an inherited condition in which the body absorbs too much iron from food. Excess iron accumulates in organs such as the liver, heart, pancreas, and joints.

If untreated, iron overload can lead to liver scarring (fibrosis), cirrhosis, diabetes, heart disease, and liver cancer.

Diagnosis & Treatment

How is iron overload assessed?

Assessment involves blood tests to evaluate iron levels and, when appropriate, genetic testing. Imaging or further tests may be used to assess liver involvement, including MRI scan to estimate the amount of iron overload in your liver and FibroScan to measure liver stiffness.

How are iron overload and haemochromatosis treated?

Treatment depends on whether true iron overload is present. In haemochromatosis, excess iron is removed from the body through regular venesection (blood removal), similar to blood donation. This safely reduces iron levels and prevents further organ damage. Once iron levels are controlled, long-term maintenance treatment and monitoring are required.

When raised ferritin is due to inflammation, fatty liver disease, or alcohol use rather than iron overload, treatment focuses on managing the underlying condition rather than iron removal. Early diagnosis and appropriate treatment are highly effective in preventing long-term liver complications.