From the Guidelines
Management of hereditary hemochromatosis primarily involves regular phlebotomy to reduce iron overload, with the goal of maintaining serum ferritin levels between 50-100 lg/L, as recommended by the American Association for the Study of Liver Diseases 1. The treatment approach typically requires weekly phlebotomy (removal of 500 mL of blood) until ferritin levels decrease to the target range, with regular monitoring of hemoglobin, ferritin, and transferrin saturation to guide treatment frequency 1. Some key points to consider in the management of hereditary hemochromatosis include:
- Initial treatment typically requires weekly phlebotomy until ferritin levels decrease to 50-100 ng/mL and transferrin saturation falls below 50% 1
- Maintenance phlebotomy is performed every 2-4 months to keep ferritin below 100 ng/mL 1
- Patients should have regular monitoring of hemoglobin, ferritin, and transferrin saturation to guide treatment frequency 1
- For those who cannot tolerate phlebotomy, iron chelation therapy with medications like deferasirox (starting at 20 mg/kg/day) or deferoxamine (20-40 mg/kg/day subcutaneously) can be used 1
- Patients should avoid iron and vitamin C supplements, limit alcohol consumption, and follow a diet moderate in iron-rich foods 1
- Treatment should begin early, even in asymptomatic patients with elevated iron studies, to prevent complications like cirrhosis, diabetes, cardiomyopathy, and arthropathy 1
- Regular screening for these complications is essential, including liver function tests, blood glucose monitoring, cardiac evaluation, and joint assessment 1
- Early and consistent treatment can prevent organ damage and allow normal life expectancy in most patients with hereditary hemochromatosis 1
From the Research
Diagnosis of Hereditary Haemochromatosis
- Hereditary haemochromatosis can be diagnosed through laboratory testing for serum ferritin and transferrin saturation 2
- Genetic testing for the HFE mutation can be performed in patients with elevated iron indices and a suspicion for haemochromatosis or liver disease 2
- Serum ferritin measurement is the most useful prognostic indicator of disease severity 3
Management of Hereditary Haemochromatosis
- Treatment of patients with the clinical phenotype of hereditary haemochromatosis is commonly through phlebotomy for removal of excess iron stores 2
- Phlebotomy can prevent or reverse organ damage from iron overload if diagnosed and treated early 4
- Deferasirox, an oral iron chelator, can be used as an alternative to phlebotomy in selected patients, particularly those who are refractory to or intolerant of phlebotomy 5, 6
- The frequency of phlebotomy is guided by serial measurements of serum ferritin levels and transferrin saturation 3
Treatment Options
- Phlebotomy: simple and effective in removing excess iron stores, but may not be suitable for all patients 4, 2, 3
- Deferasirox: a safe and effective alternative to phlebotomy in selected patients, with significant decreases in serum ferritin, transferrin saturation, and liver iron concentration 5, 6
Important Considerations
- Early diagnosis and treatment are crucial to prevent or reverse organ damage from iron overload 4
- Iron avidity can result from overtreatment, and dietary modification is generally unnecessary 3
- Universal screening for hereditary haemochromatosis is not recommended, but testing should be performed in first-degree relatives of patients with classical HFE-related haemochromatosis, those with evidence of active liver disease, and patients with abnormal iron study results 3