From the Guidelines
Laboratory tests for hemochromatosis should include serum iron studies, specifically transferrin saturation and serum ferritin levels, as these are crucial for diagnosing and managing the condition. According to the American College of Physicians guideline on screening for hereditary hemochromatosis 1, the diagnosis of hereditary hemochromatosis is usually based on a combination of various genetic or phenotypic criteria. Key laboratory tests include:
- Transferrin saturation to determine how much iron is bound to the protein that carries iron in the blood
- Serum ferritin level to confirm the diagnosis of hereditary hemochromatosis
- Genetic testing for HFE gene mutations (C282Y and H63D) if initial tests are abnormal
- Liver function tests (ALT, AST) to assess for liver damage For patients with confirmed hemochromatosis, additional testing may include:
- Liver biopsy to determine the degree of iron overload and fibrosis
- Blood glucose to screen for diabetes
- Cardiac evaluation
- Hormone levels if endocrine dysfunction is suspected Regular monitoring of ferritin levels is necessary during treatment, which typically involves therapeutic phlebotomy to reduce iron stores, as recommended by the guideline 1. These tests are crucial because hemochromatosis leads to progressive iron accumulation in tissues, causing organ damage if left untreated, but early diagnosis and treatment can prevent complications.
From the Research
Hemochromatosis Labs
- Hemochromatosis is an autosomal recessive disorder that can be diagnosed through laboratory tests, including serum iron concentration, transferrin saturation, and serum ferritin concentration 2.
- Characteristic abnormalities of laboratory tests for hemochromatosis include:
- Elevated serum iron concentration
- High transferrin saturation
- Elevated serum ferritin concentration
- Elevated serum transaminases
- Hyperglycemia
- Low values for thyroid-stimulating hormone (TSH) and gonadotropins 2
- Initial screening for hemochromatosis should be by measurement of serum iron concentration and transferrin saturation, with a diagnostic algorithm for cases in which the serum transferrin saturation is 60% or greater 2.
- MRI has emerged as the reference standard imaging modality for the detection and quantification of hepatic iron deposition, with a high sensitivity and specificity for detecting liver iron overload 3, 4.
- Laboratory testing for serum ferritin and transferrin saturation can be used to initially recognize hereditary hemochromatosis, with genetic testing for the HFE mutation performed in patients with elevated iron indices and a suspicion for hemochromatosis or liver disease 5.
- Transferrin saturation can be used as a screening test for iron overload, with abnormal results confirmed by measuring the serum ferritin concentration and by performing other diagnostic tests such as liver biopsy and quantitative phlebotomy 6.