From the Guidelines
Hemochromatosis diagnosis should be initiated with serum ferritin and transferrin saturation tests, as these are the most sensitive and specific markers for iron overload, with elevated levels suggesting the need for further investigation, including genetic testing for HFE gene mutations 1. The diagnosis of hemochromatosis involves a step-wise approach, starting with the assessment of serum iron parameters, including transferrin saturation and serum ferritin, which are recommended as the first step in testing for haemochromatosis 1.
Key Diagnostic Tests
- Serum ferritin: elevated levels (>300 μg/L in men, >200 μg/L in women) suggest iron overload
- Transferrin saturation: elevated levels (>45%) suggest iron overload
- Complete blood count: to rule out other causes of iron overload
- Genetic testing: for HFE gene mutations, particularly C282Y and H63D, to confirm hereditary hemochromatosis Some key points to consider when interpreting these tests include:
- Transferrin saturation shows significant variability, which limits its usefulness 1
- Ferritin is not only a marker of iron overload but also an acute phase reactant, tumor marker, and indicator of increased angiogenesis, and its levels can be elevated in conditions such as fatty liver disease or metabolic syndrome 1
- Blood samples for the measurement of transferrin saturation should be taken in the morning, but fasting does not improve diagnostic utility 1
Additional Tests
Additional tests may be necessary to confirm the diagnosis and assess the extent of organ damage, including:
- Liver function tests: to assess for liver damage
- Blood glucose: to screen for diabetes, which can be a complication of hemochromatosis
- Liver biopsy: may be necessary in some cases to assess hepatic iron concentration and evaluate for liver damage, though this is less commonly required with the availability of genetic testing 1 Early diagnosis is crucial, as treatment through regular phlebotomy can prevent organ damage from iron accumulation, and family members of affected individuals should also be screened, as the condition has a genetic basis and follows an autosomal recessive inheritance pattern 1.
From the Research
Hemochromatosis Diagnosis Labs
- The diagnosis of hemochromatosis involves the measurement of serum transferrin saturation and serum ferritin level 2.
- Serum ferritin levels and hepatic iron stores on liver biopsy specimens are used to assess patients for the presence of iron overload 2.
- Liver biopsy is also used to establish the presence or absence of cirrhosis, which can affect prognosis and management 2.
- Genetic testing for the HFE mutation can be performed in patients with elevated iron indices and a suspicion for hemochromatosis or liver disease 3.
- Laboratory testing for serum ferritin and transferrin saturation can initially recognize hemochromatosis 3.
Laboratory Tests
- Serum transferrin saturation
- Serum ferritin level
- Hepatic iron stores on liver biopsy specimens
- Genetic testing for the HFE mutation
Note
There is no relevant information from the study in 1979 4 to assist in answering this question about hemochromatosis diagnosis labs.