From the Guidelines
Venesection is not recommended for haemochromatosis with low ferritin and high transferrin, as it may worsen iron deficiency. It's unusual to have haemochromatosis with this combination of lab values, as it contradicts the typical presentation of haemochromatosis. Before considering any treatment, you should consult with a hematologist for further evaluation, as this combination suggests either an early stage of haemochromatosis before iron overload has occurred, a misdiagnosis, or the presence of other conditions affecting your iron parameters. Genetic testing for HFE gene mutations (C282Y, H63D) would be important to confirm the diagnosis, as recommended by the EASL clinical practice guidelines on haemochromatosis 1.
If you have confirmed haemochromatosis through genetic testing but currently have low ferritin, monitoring your iron studies regularly (every 3-6 months) would be more appropriate than starting venesection. The EASL guidelines suggest that the target for iron depletion during induction is a serum ferritin of 50 lg/L, but not lower to avoid iron deficiency 1. Treatment with phlebotomy is typically initiated when ferritin levels are elevated (usually >300 μg/L in men or >200 μg/L in women) and transferrin saturation is high (>45%), indicating actual iron overload, as recommended by the American Association for the Study of Liver Diseases 1.
Key points to consider:
- Genetic testing for HFE gene mutations is essential to confirm the diagnosis
- Monitoring iron studies regularly is recommended for patients with low ferritin
- Venesection is not recommended for patients with low ferritin, as it may worsen iron deficiency
- Treatment with phlebotomy is typically initiated when ferritin levels are elevated and transferrin saturation is high.
From the Research
Haemochromatosis Treatment
- The treatment of haemochromatosis typically involves the removal of excess iron stores through phlebotomy, also known as venesection 2.
- Venesection has been shown to have several health benefits, including improvements in liver function tests, reversal of liver scarring, and reduced risk of liver cancer 3.
- However, the decision to undergo venesection depends on various factors, including the patient's iron levels and overall health.
Iron Levels and Venesection
- In patients with haemochromatosis, iron overload can be recognized through laboratory testing for serum ferritin and transferrin saturation 2.
- Low ferritin levels and high transferrin levels may indicate a need for further evaluation and potential treatment with venesection.
- However, the specific iron levels that require venesection can vary depending on the individual patient and their overall health.
Relevant Studies
- A 2015 study published in Clinics in Liver Disease discussed the diagnosis and management of hereditary hemochromatosis, including the use of venesection as a treatment option 2.
- A 2020 study published in JHEP Reports highlighted the effects of venesection on the gut microbiome in patients with haemochromatosis, suggesting that iron reduction through venesection can alter the gut microbiota 3.
- Studies from 1979 and 1976 are not relevant to the treatment of haemochromatosis with low ferritin and high transferrin levels 4, 5.