Hemochromatosis

• Hemochromatosis is a genetic disorder causing excessive iron absorption and accumulation in the body.
• Untreated iron overload can lead to severe damage in organs like the liver, heart, and pancreas.
• Common symptoms include fatigue, joint pain, and abdominal discomfort, often appearing in middle age.
• Diagnosis involves blood tests to measure iron levels and genetic testing.
• The primary treatment is therapeutic phlebotomy, which involves regularly removing blood to reduce iron stores.

What is Hemochromatosis?

Hemochromatosis refers to a condition where the body accumulates too much iron. This excess iron is stored in tissues and organs, particularly the liver, heart, and pancreas, where it can become toxic. The most common form, hereditary hemochromatosis, is a genetic disorder passed down through families. It is one of the most common genetic diseases in the United States, affecting about 1 in 300 non-Hispanic whites, according to the Centers for Disease Control and Prevention (CDC).

Normally, the body absorbs just enough iron to meet its needs, but in individuals with hemochromatosis, the regulatory mechanisms fail, leading to chronic iron overload. This progressive accumulation can lead to serious health complications over time if not managed effectively.

Symptoms, Causes, and Diagnosis of Hemochromatosis

Hemochromatosis symptoms and causes are varied, often developing gradually and mimicking other conditions, which can delay diagnosis. Early symptoms are often non-specific, such as chronic fatigue and weakness. As iron continues to build up, more distinct symptoms can emerge, typically between ages 40 and 60 for men, and after menopause for women due to menstrual blood loss.

Common symptoms include:

• Chronic fatigue and weakness
• Joint pain, particularly in the knuckles of the first two fingers
• Abdominal pain
• Liver problems, including an enlarged liver or cirrhosis
• Heart problems, such as irregular heartbeats or heart failure
• Diabetes, resulting from iron damage to the pancreas
• Skin darkening (bronze skin)
• Loss of libido and erectile dysfunction in men

The primary cause of hereditary hemochromatosis is mutations in the HFE gene, which plays a crucial role in regulating iron absorption. The most common mutations are C282Y and H63D. Individuals who inherit two copies of the C282Y mutation (one from each parent) are at the highest risk of developing iron overload.

How is Hemochromatosis Diagnosed?

Diagnosing hemochromatosis typically involves a combination of blood tests and, if necessary, genetic testing. Initial screening tests measure the amount of iron in the blood and how much of it is bound to transferrin, a protein that carries iron. Key diagnostic indicators include elevated serum ferritin levels, which reflect the body’s iron stores, and high transferrin saturation, indicating that a large percentage of transferrin is carrying iron. If these blood tests suggest iron overload, genetic testing for HFE mutations can confirm a diagnosis of hereditary hemochromatosis. In some cases, a liver biopsy may be performed to assess the extent of iron accumulation and liver damage, though this is less common with advanced non-invasive methods.

Hemochromatosis Treatment Options

Hemochromatosis treatment options primarily focus on removing excess iron from the body and managing any organ damage that has occurred. The most common and effective treatment is therapeutic phlebotomy, which is essentially a medical blood draw. This procedure is similar to donating blood, but it is performed regularly to reduce the body’s iron stores to healthy levels.

Initially, phlebotomy may be performed weekly until iron levels, particularly serum ferritin, return to the normal range. Once iron levels are normalized, maintenance phlebotomy is typically required every 2 to 3 months for life to prevent iron re-accumulation. The frequency of treatment depends on the individual’s iron levels and how quickly their body accumulates iron. Early diagnosis and consistent treatment are crucial for preventing severe organ damage and improving long-term outcomes for individuals with hemochromatosis.