From the Guidelines
Venesection is not recommended for haemochromatosis patients with low ferritin and low transferrin levels, as it may exacerbate potential iron deficiency. Haemochromatosis is typically characterized by elevated ferritin and transferrin saturation due to iron overload, and low levels of these markers suggest that iron accumulation is not currently a concern 1. According to the 2011 practice guideline by the American Association for the Study of Liver Diseases, phlebotomy is the mainstay of treatment for haemochromatosis, but it is usually initiated in patients with evidence of liver disease or other end-organ manifestations, and not in those with low iron parameters 1.
Some key points to consider in the management of haemochromatosis include:
- Phlebotomy is used to reduce tissue iron stores to normal, improve survival, and improve quality of life 1
- The decision to treat haemochromatosis with phlebotomy is straightforward in patients with evidence of liver disease or other end-organ manifestations, but more difficult in asymptomatic patients with low ferritin levels 1
- Low ferritin levels actually indicate potential iron deficiency, which would be worsened by venesection 1
- Treatment decisions for haemochromatosis should be based on iron load status, not just the genetic diagnosis 1
Before considering any treatment, it is essential to consult with a hematologist or gastroenterologist for proper evaluation, including genetic testing for HFE gene mutations and assessment of overall iron status with additional blood tests 1. If haemochromatosis is confirmed but iron parameters are currently low, regular monitoring of levels may be recommended rather than initiating venesection therapy 1. Venesection would typically be considered only when ferritin and transferrin saturation rise to concerning levels, indicating active iron accumulation 1.
From the Research
Haemochromatosis with Low Ferritin and Low Transferrin
- In cases of haemochromatosis, low ferritin and low transferrin levels may indicate iron deficiency, which can occur due to excessive therapeutic phlebotomy 2.
- A study published in the American Journal of Hematology found that 13 adults with hemochromatosis developed iron deficiency after routine iron depletion therapy, with symptoms and signs of iron deficiency, including low transferrin saturation and serum ferritin concentrations 2.
- The decision to perform venesection in patients with haemochromatosis and low ferritin and low transferrin levels should be based on individual patient needs and monitoring of hemoglobin levels and serum ferritin 2, 3.
Monitoring and Management
- Regular monitoring of hemoglobin levels, serum ferritin, and mean corpuscular volume (MCV) can help guide the pace of phlebotomy therapy for hemochromatosis 3.
- A study published in Transfusion found that MCV can be a useful guide to the pace of phlebotomy therapy, with changes in MCV and hemoglobin used to guide the pace of phlebotomy over a median of 7 years of follow-up 3.
- Patients with stable ferritin control can be discharged from therapeutic venesection clinics and educated to manage their own venesection by regular blood donation and annual serum ferritin checks 4.
Iron Chelation Therapy
- Iron chelation therapy can be an effective treatment for hereditary hemochromatosis and thalassemia intermedia, particularly in cases where venesection is contraindicated 5.
- Deferoxamine, deferiprone, and deferasirox are examples of iron chelating drugs that can be used to reverse the toxic side effects of iron overload 5.