Understanding Haemochromatosis and the Goal of Treatment
Haemochromatosis, also known as iron overload, is a genetic disorder where the body absorbs and stores too much iron from the diet. The excess iron is deposited in organs and joints, potentially causing damage to the liver, heart, and pancreas over time if left untreated. Crucially, while the genetic predisposition cannot be reversed, the iron buildup can be. The primary goal of treatment is not to cure the underlying genetics but to reduce the iron stores to a safe, healthy level and then maintain them there for life. Timely intervention is critical, as it can prevent or slow the progression of serious complications and may even reverse some organ damage.
The Gold Standard: Therapeutic Phlebotomy
For the vast majority of people with haemochromatosis, the most effective and common treatment is therapeutic phlebotomy, which is essentially a procedure to remove blood. This is done regularly to decrease the body's iron stores. By removing blood, the body is forced to use its stored iron to produce new red blood cells, thereby gradually lowering the overall iron level. The treatment is typically divided into two phases:
The Induction Phase
- Frequency: Blood is removed more frequently, often weekly or fortnightly.
- Volume: Approximately one pint (around 470ml) of blood is removed during each session.
- Duration: This phase continues until iron levels, typically measured by serum ferritin and transferrin saturation, return to a normal range. This can take several months to over a year, depending on the severity of the overload at diagnosis.
The Maintenance Phase
- Frequency: Once iron levels are normalised, the frequency of phlebotomy is reduced significantly, with sessions occurring every few months for the rest of a person's life.
- Goal: The aim is to prevent iron from building up again, maintaining a healthy iron balance.
The Alternative: Iron Chelation Therapy
For a small number of patients who cannot undergo regular phlebotomy—for example, due to poor venous access, certain types of heart disease, or anemia—iron chelation therapy is an alternative. This treatment involves taking a medication, either orally or via injection, that binds to the excess iron in the body. The iron is then expelled from the body through urine or stool.
- Oral Medications: Medicines like deferasirox and deferiprone are available for oral administration.
- Injections: Deferoxamine is administered via injection, typically subcutaneously or intravenously.
- Monitoring: Chelation therapy requires careful medical monitoring to manage potential side effects and ensure efficacy.
Dietary and Lifestyle Adjustments
While not a primary treatment, making smart dietary and lifestyle choices is a critical supportive measure for managing haemochromatosis. It can help reduce the frequency of phlebotomy needed during the maintenance phase.
What to Avoid
- Iron Supplements: Do not take iron supplements or multivitamins containing iron.
- Vitamin C Supplements: Avoid high-dose vitamin C supplements near mealtimes, as vitamin C significantly increases iron absorption.
- Excessive Alcohol: Limit or completely avoid alcohol, which can accelerate liver damage.
- Raw Shellfish: Avoid raw or undercooked shellfish due to the risk of serious infection from bacteria that thrive in iron-rich environments.
- Iron-Fortified Foods: Check labels for iron-fortified cereals and other food products and avoid them.
- Cast Iron Cookware: Do not cook acidic foods in cast iron pans, as iron can leach into the food.
What to Incorporate
- Tannin-Rich Drinks: Drink black or green tea or coffee with meals, as the tannins can inhibit iron absorption.
- Calcium-Rich Foods: Include low-fat dairy or calcium-rich foods with meals, as calcium can decrease iron uptake.
- Plant-Based Proteins: Focus on plant-based proteins like legumes and beans over red meat, as they contain less absorbable non-heme iron.
- High-Fibre Foods: A diet rich in dietary fibre from whole grains, fruits, and vegetables can also help reduce iron absorption.
Phlebotomy vs. Chelation Therapy: A Comparison
| Feature | Therapeutic Phlebotomy | Iron Chelation Therapy |
|---|---|---|
| Mechanism | Removes iron by drawing blood regularly. | Administers medication that binds and removes excess iron via urine/stool. |
| Application | Primary treatment for most patients with iron overload. | Used for patients who cannot tolerate phlebotomy. |
| Effectiveness | Highly effective in reducing iron stores and managing the condition. | Moderately effective, often slower than phlebotomy. |
| Administration | Performed in a clinic or hospital; can be converted to blood donation once stable. | Oral pills or regular injections. |
| Side Effects | Temporary fatigue or lightheadedness are common. | Gastrointestinal upset, skin reactions, potential organ toxicity, and injection site irritation are possible. |
| Cost | Relatively inexpensive. | Can be expensive depending on the specific medication used. |
Can Haemochromatosis Damage be Reversed?
Early diagnosis and treatment with phlebotomy can significantly reduce or reverse many complications of iron overload. Symptoms like fatigue, joint pain, and skin darkening often improve with effective iron removal. For liver disease, phlebotomy can halt the progression of fibrosis and, in some cases, reverse it, particularly in less advanced stages. However, once cirrhosis is established, the damage to the liver is usually irreversible, although treatment can prevent further deterioration. Similarly, advanced complications like severe joint pain or existing damage to the heart may not be fully reversible, but their progression can be slowed. This underscores the importance of early diagnosis and consistent, lifelong treatment.
Conclusion
While a genetic predisposition to haemochromatosis is permanent, the resulting iron overload is not. By engaging in consistent medical management, primarily through therapeutic phlebotomy or chelation therapy, individuals can effectively reverse the iron accumulation that damages organs over time. Combined with mindful dietary and lifestyle adjustments, this approach ensures a normal life expectancy and significantly reduces the risk of serious complications. The key to success lies in early detection and a commitment to a lifelong management plan. Regular monitoring of iron levels and close collaboration with a healthcare provider are essential for long-term health and well-being.