From the Guidelines
The diagnostic workup for iron overload (hyperferremia) should start with serum ferritin and transferrin saturation tests, and if these are elevated, proceed with genetic testing for HFE gene mutations, as recommended by the most recent guidelines 1. The initial assessment of serum iron parameters, including transferrin saturation and serum ferritin, is crucial in diagnosing haemochromatosis, with elevated transferrin saturation and high ferritin indicating iron overload 1. Additional tests may include:
- Complete blood count (CBC)
- Liver function tests
- Blood glucose levels
- MRI of the liver to assess iron content, which can provide non-invasive quantification of liver iron and guide diagnosis and management 1 If genetic testing is positive or iron overload is confirmed, treatment usually involves regular phlebotomy (blood removal) to reduce iron levels, with the goal of preventing organ damage and improving long-term outcomes 1. It is essential to consider the patient's symptoms, physical findings, and family history when interpreting the results of these tests, and to rule out other causes of hyperferritinemia, such as chronic alcohol consumption, inflammation, and non-alcoholic fatty liver disease 1. The most critical step in the diagnostic workup is to identify patients with elevated transferrin saturation and ferritin, and to proceed with genetic testing and further evaluation to confirm the diagnosis of haemochromatosis, as this can lead to serious complications if left untreated 1.
From the Research
Diagnostic Workup for Iron Overload (Hyperferremia)
The diagnostic workup for iron overload (hyperferremia) involves several laboratory tests to assess iron stores and identify potential causes of iron overload.
- Serum ferritin level is a key indicator of iron stores, with elevated levels suggesting iron overload 2.
- Other tests that may be used to evaluate iron overload include:
- Serum iron level
- Total iron-binding capacity (TIBC)
- Transferrin saturation level
- These tests can help distinguish between iron overload and other conditions, such as iron deficiency anemia or anemia of chronic disease 3, 4.
Laboratory Tests
The following laboratory tests are commonly used to evaluate iron overload:
- Serum ferritin level: elevated levels suggest iron overload 2
- Serum iron level: may be elevated in iron overload, but can also be influenced by other factors such as time of day 5
- TIBC: may be decreased in iron overload, as iron binds to transferrin and reduces the amount of unbound iron-binding capacity 3, 6
- Transferrin saturation level: may be elevated in iron overload, as iron binds to transferrin and increases the saturation level 3, 6
Interpretation of Results
Interpretation of laboratory results requires consideration of multiple factors, including:
- Serum ferritin level: elevated levels suggest iron overload, but may also be influenced by inflammation or other conditions 2
- Serum iron level: may be elevated in iron overload, but can also be influenced by time of day or other factors 5
- TIBC and transferrin saturation level: may be decreased or elevated in iron overload, respectively, but can also be influenced by other conditions such as iron deficiency anemia or anemia of chronic disease 3, 4