From the Guidelines
Hemochromatosis should be treated with regular phlebotomy to reduce iron levels, with initial weekly phlebotomy removing about 500 ml of blood until ferritin levels drop below 50 ng/mL and transferrin saturation falls below 50%, followed by maintenance therapy every 2-4 months to keep ferritin between 50-100 ng/mL, as recommended by the most recent guidelines 1. The goal of treatment is to prevent complications such as liver cirrhosis, diabetes, heart problems, and arthritis, which are common in patients with hemochromatosis, particularly those of Northern European descent with mutations in the HFE gene, such as C282Y homozygosity 1. Key aspects of management include:
- Regular phlebotomy to reduce iron levels
- Avoidance of iron supplements and vitamin C with meals, which can enhance iron absorption
- Limitation of alcohol consumption to prevent worsening liver damage
- Consideration of a low-iron diet, reducing red meat and iron-fortified foods
- Use of iron chelators like deferasirox or deferoxamine for patients who cannot tolerate phlebotomy 1. It is essential to diagnose and treat hemochromatosis early to prevent long-term complications, as institution of phlebotomy therapy before cirrhosis and/or diabetes develop can significantly reduce morbidity and mortality 1. The diagnosis of hemochromatosis is based on elevated transferrin saturation and liver iron overload, with genetic testing for HFE gene mutations, such as C282Y homozygosity, being an important diagnostic tool 1. Overall, the management of hemochromatosis requires a comprehensive approach, including regular phlebotomy, lifestyle modifications, and careful monitoring to prevent complications and improve quality of life, as outlined in the most recent clinical practice guidelines 1.
From the Research
Hemochromatosis Treatment Options
- Phlebotomy is a standard treatment for hemochromatosis, involving the removal of excess iron from the body through blood draws 2
- Deferasirox, an oral iron chelator, has been shown to be effective in reducing iron burden in patients with hereditary hemochromatosis, particularly in those who are intolerant or refractory to phlebotomy 3, 4
- Dietary modification may also play a role in reducing iron burden in hemochromatosis patients, although more research is needed to standardize dietary recommendations 5
Monitoring and Guidance
- Mean corpuscular volume (MCV) can be used as a guide to phlebotomy therapy for hemochromatosis, with changes in MCV and hemoglobin (Hb) levels used to monitor the pace of treatment 2
- Transferrin saturation and ferritin levels can also be used to monitor iron stores, although ferritin levels may not be a reliable guide to the pace of phlebotomy 2
Patient Outcomes
- Patients with hereditary hemochromatosis who received deferasirox treatment showed significant decreases in serum ferritin, transferrin saturation, and liver iron concentration 3, 4
- Phlebotomy and deferasirox treatment have been shown to reduce iron burden in pediatric patients with thalassemia major following curative stem cell transplantation 6