From the Guidelines
Hemochromatosis diagnosis and treatment should prioritize serum ferritin and transferrin saturation measurements, followed by genetic testing and therapeutic phlebotomy to remove excess iron from the body, as recommended by the most recent guidelines 1. The diagnostic approach to hemochromatosis involves assessing serum iron parameters, including transferrin saturation and serum ferritin, as the first step, with a strong recommendation and consensus 1.
Key Diagnostic Tests
- Serum ferritin and transferrin saturation measurements
- Genetic testing for HFE gene mutations, particularly C282Y and H63D
- Liver biopsy to assess organ damage and iron concentration The primary treatment for hemochromatosis is therapeutic phlebotomy, with treatment targets of ferritin <50 µg/L during the induction phase and <100 µg/L during the maintenance phase, as outlined in the 2022 EASL clinical practice guidelines on haemochromatosis 1.
Treatment Options
- Therapeutic phlebotomy: one unit (approximately 500 mL) of blood removed weekly until ferritin levels reach 50-100 ng/mL, followed by maintenance phlebotomies every 2-4 months
- Iron chelation therapy with medications like deferoxamine, deferasirox, or deferiprone for patients who cannot tolerate phlebotomy
- Low-iron diet, avoidance of vitamin C supplements with meals, limited alcohol consumption, and avoidance of raw shellfish due to infection risk Regular monitoring of ferritin levels is essential to prevent complications like liver cirrhosis, diabetes, heart problems, and arthritis, with early diagnosis and consistent treatment being crucial in managing hemochromatosis and preventing organ damage 1.
From the FDA Drug Label
The FDA drug label does not answer the question.
From the Research
Diagnostic Tests for Hemochromatosis
- The diagnosis of hemochromatosis is typically made through a combination of serum transferrin saturation and serum ferritin level measurements 2, 3, 4, 5.
- Liver biopsy can be used to assess hepatic iron stores and establish the presence or absence of cirrhosis, which can affect prognosis and management 2, 3, 4, 5.
- Genetic testing for the HFE gene is also available, but its primary use is in detecting hemochromatosis in family members of patients with a proven case of the disease 2, 3.
- Magnetic resonance imaging (MRI) scans can also support the diagnosis of hemochromatosis, particularly in patients with characteristic findings 5.
Treatment Options for Hemochromatosis
- Phlebotomy is the primary treatment for hemochromatosis, aiming to reduce the total body iron load and prevent continuing deposition of iron in tissues 2, 3, 4, 5.
- The frequency of phlebotomy is guided by serial measurements of serum ferritin levels and transferrin saturation 3.
- Dietary modification is generally unnecessary, but iron avidity can result from overtreatment, which may mimic undertreatment with persistently elevated transferrin saturation 3.
- Screening for hepatocellular carcinoma is recommended for patients with hereditary hemochromatosis and cirrhosis 3.
- Early detection and treatment can prevent manifestations of the disease, and skin pigmentation and some cardiac damage may reverse on depletion of iron stores 4.