From the Guidelines
Inflammation Caused by Hemochromatosis: Laboratory Tests
To assess inflammation caused by hemochromatosis, serum ferritin, transferrin saturation, and liver function tests such as aspartate aminotransferase (AST) and alanine aminotransferase (ALT) should be checked 1. Additionally, markers of inflammation such as C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR) should be evaluated.
- Iron studies, including serum iron and total iron-binding capacity (TIBC), are also essential to confirm the diagnosis of hemochromatosis and monitor the effectiveness of treatment, such as phlebotomy or iron chelation therapy with deferoxamine 1.
- The concentration of serum iron and transferrin or total iron binding capacity can provide additional information for the differential diagnosis 1.
- Elevated liver transaminases are also indicative of hemochromatosis with iron overload 1.
- It is crucial to consider that ferritin is not only a marker of iron overload but also an acute phase reactant, and its levels can be elevated in conditions associated with fatty liver disease, such as excess alcohol consumption, or the metabolic syndrome 1.
- Genetic testing for HFE gene mutations (C282Y and H63D) may also be considered, especially in individuals with a positive first-degree family history of haemochromatosis 1.
From the Research
Inflammation Caused by Hemochromatosis
To check for inflammation caused by hemochromatosis, the following labs can be considered:
- Serum ferritin: Although it can be affected by non-iron related factors such as inflammation, serum ferritin is frequently used as an indicator of iron stores 2
- Transferrin saturation: This test measures the percentage of transferrin that is saturated with iron and can be used to assess iron overload 3
- Liver iron concentration: This can be measured using a liver biopsy or non-invasive techniques such as SQUID-biosusceptometry 2, 4
- Alanine aminotransferase (ALT): This enzyme can be elevated in cases of liver damage or inflammation caused by iron overload 5
- Complete Blood Count (CBC): This test can help identify anemia or other blood-related abnormalities that may be associated with hemochromatosis 6
Limitations of Lab Tests
It's worth noting that:
- Serum ferritin can be influenced by factors other than iron stores, such as inflammation, and may not always accurately reflect iron overload 2
- Hepatic iron concentration may not saturate or accurately predict phlebotomy requirements in patients with hereditary hemochromatosis 4
- Other lab tests, such as HLA typing, may be useful in identifying individuals at risk of developing hemochromatosis, but are not directly related to inflammation caused by the condition 3