From the Guidelines
For a female with persistently elevated ferritin and normal TIBC, genetic testing for hereditary hemochromatosis should be ordered, specifically for HFE gene mutations (C282Y and H63D), as recommended by the most recent guidelines 1. This approach is supported by the EASL clinical practice guidelines on haemochromatosis, which suggest that the first step in testing for haemochromatosis is the assessment of serum iron parameters, including transferrin saturation and serum ferritin 1.
Key Considerations
- The concentration of serum iron and transferrin or total iron binding capacity can provide additional information for the differential diagnosis 1.
- Measuring hepcidin is not recommended 1.
- Biochemical findings that indicate haemochromatosis with iron overload include elevated transferrin saturation, high ferritin, and elevated liver transaminases 1.
- Individuals with a positive first-degree family history of haemochromatosis should also be tested by HFE genotyping with appropriate genetic counselling 1.
Additional Tests
- Serum iron and transferrin saturation should be determined as part of the workup for any individual with abnormal liver blood tests 1.
- Liver function tests and possibly liver imaging may also be necessary to evaluate the extent of iron overload and potential organ damage 1.
Potential Causes and Complications
- Other potential causes to consider include inflammatory conditions, alcoholic liver disease, and metabolic syndrome, which may require different testing approaches 1.
- If hemochromatosis is confirmed, treatment typically involves therapeutic phlebotomy to reduce iron stores, and early diagnosis is crucial to prevent serious complications including liver disease, diabetes, and heart problems 1.
From the Research
Lab Tests for Elevated Ferritin with Normal TIBC
- The provided studies do not directly address the lab tests for a female with persistently elevated ferritin and normal Total Iron-Binding Capacity (TIBC) 2, 3, 4.
- However, study 3 mentions that screening for hereditary hemochromatosis should be undertaken as part of the evaluation of hepatocellular injury.
- Hereditary hemochromatosis is a condition characterized by elevated ferritin levels, and normal TIBC is not uncommon in this condition.
- Some possible lab tests that may be ordered in this scenario include:
- Genetic testing for hereditary hemochromatosis
- Liver function tests, such as ALT and AST, to assess for liver damage
- Imaging studies, such as ultrasound or MRI, to assess for liver iron overload
- It is essential to note that the provided studies do not specifically address the scenario of elevated ferritin with normal TIBC, and further research or consultation with a healthcare professional may be necessary to determine the appropriate course of action 2, 3, 4.