From the Guidelines
Hemochromatosis is typically diagnosed through a combination of blood tests, including serum ferritin levels and transferrin saturation, with elevated ferritin (often above 300 ng/mL in men and 200 ng/mL in women) and transferrin saturation greater than 45% suggesting iron overload, as recommended by the American College of Physicians 1.
Diagnostic Approach
The initial screening involves blood tests to measure serum ferritin levels and transferrin saturation.
- Elevated ferritin levels and transferrin saturation are key indicators of iron overload.
- If these tests are abnormal, genetic testing for the HFE gene mutations (particularly C282Y and H63D) should be performed to confirm hereditary hemochromatosis 1.
Genetic Testing and Liver Biopsy
- Genetic testing can confirm the diagnosis of hereditary hemochromatosis.
- In some cases, a liver biopsy may be necessary to assess the extent of iron accumulation and potential liver damage, especially in patients with significantly elevated ferritin levels or signs of liver dysfunction 1.
Importance of Early Diagnosis
Early diagnosis is crucial as treatment through regular phlebotomy (blood removal) can prevent organ damage from iron accumulation.
- Family members of diagnosed patients should also be screened, as hereditary hemochromatosis follows an autosomal recessive inheritance pattern 1.
Key Diagnostic Criteria
- Serum ferritin level greater than 200 µg/mL and transferrin saturation greater than 55% suggest an increased risk for hereditary hemochromatosis and the need for further investigation 1.
From the Research
Diagnosis of Hemochromatosis
To diagnose hemochromatosis, several tests can be used, including:
- Serum ferritin level: This test measures the amount of ferritin in the blood, which can indicate iron overload 2, 3.
- Transferrin saturation: This test measures the percentage of transferrin that is saturated with iron, which can also indicate iron overload 2, 4, 3.
- Genetic testing for the HFE mutation: This test can identify individuals with the HFE gene mutation, which is associated with hereditary hemochromatosis 2, 4, 3.
- Liver biopsy: This test can measure hepatic iron stores and assess for the presence of cirrhosis, which can affect prognosis and management 3.
Laboratory Testing
Laboratory testing for serum ferritin and transferrin saturation can initially recognize hemochromatosis 2. Reference centiles for serum ferritin and percentage of transferrin saturation can be used to identify individuals with abnormal values 4.
Screening and Case Detection
The cornerstone of screening and case detection is the measurement of serum transferrin saturation and the serum ferritin level 3. However, the available evidence does not demonstrate that benefits outweigh the risks and costs of screening for hemochromatosis 5.