From the Guidelines
The target ferritin level in a patient with Hereditary Hemochromatosis (HH) should be maintained in the range of 50-100 lg/L, with a target of 50 lg/L during the induction phase and some flexibility in the maintenance phase. This recommendation is based on the most recent and highest quality study available, which suggests that maintaining ferritin levels within this range can effectively prevent iron overload complications while avoiding iron deficiency 1.
Initial Screening Tests
Initial screening tests for hemochromatosis should include:
- Serum ferritin
- Transferrin saturation
- Iron studies Transferrin saturation greater than 45% is particularly sensitive for hemochromatosis.
Additional Screening and Monitoring
Once diagnosed, patients should undergo:
- Genetic testing for HFE gene mutations (particularly C282Y and H63D) to confirm hereditary hemochromatosis
- Liver function tests to assess for hepatic damage
- Fasting glucose or HbA1c to check for diabetes
- Cardiac evaluation including echocardiogram if indicated
- Joint examination
- Assessment of reproductive hormones in cases of hypogonadism Regular monitoring of ferritin levels is necessary during treatment, which typically involves therapeutic phlebotomy to remove excess iron.
Treatment and Phlebotomy Frequency
The frequency of phlebotomy is adjusted based on ferritin levels, with more frequent sessions initially (weekly) during the depletion phase, followed by maintenance phlebotomies every 2-4 months once target levels are achieved. This aggressive iron reduction approach helps prevent serious complications including liver cirrhosis, cardiomyopathy, diabetes, and arthropathy. It is also advisable to periodically check plasma folate and plasma cobalamin, especially in patients who require numerous venesections, and administer vitamin supplements if necessary 1.
Considerations
It is essential to monitor serum haemoglobin during both induction and maintenance phases, and adjust the frequency of phlebotomy accordingly to avoid iron deficiency and ensure patient safety 1. The American Association for the Study of Liver Diseases also recommends a target level of serum ferritin of between 50 and 100 lg/L in both phases of treatment 1. However, the most recent guideline from the EASL in 2022 should be prioritized due to its recency and high quality 1.
From the Research
Target Ferritin Level in Hereditary Hemochromatosis (HH)
- The target ferritin level in patients with Hereditary Hemochromatosis (HH) is not explicitly stated in the provided studies, but it is mentioned that the standard of care for haemochromatosis is regular phlebotomy in order to maintain low ferritin levels 2.
- A study suggests that screening for hemochromatosis with serum ferritin levels will detect the majority of patients who will be clinically affected, and a ferritin level of more than 1000 microg/L is associated with an increased risk of cirrhosis 3.
Screening Tests for Hereditary Hemochromatosis (HH)
- In addition to measuring ferritin levels, other screening tests that should be performed include:
- Transferrin saturation (TS) measurement, as it is an important parameter in the diagnosis and monitoring of haemochromatosis 4, 5.
- Haemoglobin measurement, as it is affected by iron overload and can be used to monitor the effectiveness of treatment 4.
- Liver enzyme tests, as liver damage is a common complication of haemochromatosis 5.
- DNA investigation for HFE mutations, as it can confirm the diagnosis of hereditary haemochromatosis 5.
- Ultrasound of the liver, as it can detect liver damage and steatosis 5.