Haemochromatosis

Haemochromatosis is a genetic disorder characterized by excessive iron accumulation in the body, leading to tissue damage and organ dysfunction. It is also known as hereditary hemochromatosis or bronze diabetes.

What is Haemochromatosis?

Haemochromatosis is a condition where the body absorbs too much iron from food, which can lead to a buildup of iron in various organs such as the liver, pancreas, heart, and joints. This excess iron can cause damage to these organs and lead to various health problems.

Causes of Haemochromatosis

Haemochromatosis is usually caused by a genetic mutation in the HFE gene, which codes for a protein involved in iron regulation. The most common mutations are C282Y and H63D. Other genes such as HJV, HAMP, and TFR2 can also be involved in rare cases.

Symptoms of Haemochromatosis

The symptoms of haemochromatosis can vary depending on the severity of the condition and the organs affected. Common symptoms include:

• Joint pain and stiffness, particularly in the hands and fingers
• Fatigue and weakness
• Weight loss
• Abdominal pain and swelling
• Dry skin and hair loss
• Impotence or loss of libido
• Menstrual irregularities in women
• Cardiac problems such as arrhythmias and heart failure
• Diabetes mellitus
• Liver disease, including cirrhosis and liver cancer

Diagnosis of Haemochromatosis

Haemochromatosis can be diagnosed through a combination of physical examination, medical history, laboratory tests, and genetic testing. Common diagnostic tests include:

• Serum iron and transferrin saturation levels
• Ferritin levels
• Genetic testing for HFE mutations
• Liver function tests
• Imaging studies such as ultrasound, CT, or MRI to assess liver damage

Treatments for Haemochromatosis

The primary treatment for haemochromatosis is phlebotomy, which involves regular blood draws to reduce iron levels in the body. Other treatments may include:

• Iron chelation therapy to remove excess iron from the body
• Vitamin and mineral supplements to manage nutritional deficiencies
• Pain management medications for joint pain and stiffness
• Medications to manage cardiac problems, diabetes, and liver disease
• Lifestyle modifications such as avoiding iron-rich foods, reducing alcohol consumption, and increasing physical activity

Complications of Haemochromatosis

If left untreated, haemochromatosis can lead to various complications, including:

• Liver cirrhosis and liver cancer
• Cardiac problems such as heart failure and arrhythmias
• Diabetes mellitus
• Osteoporosis and osteoarthritis
• Impotence and infertility
• Cognitive impairment and dementia

Prevention of Haemochromatosis

While haemochromatosis cannot be prevented, early diagnosis and treatment can help prevent complications. Individuals with a family history of the condition should undergo genetic testing and regular screening for iron overload.