From the Guidelines
Congenital primary iron overload should be treated with regular phlebotomy to reduce iron levels, with a target ferritin level of 50-100 lg/L, as recommended by the most recent guidelines 1. The treatment of congenital primary iron overload, also known as hereditary hemochromatosis, involves reducing iron levels in the body to prevent organ damage.
- The primary treatment is regular phlebotomy, which involves removing one unit (about 500 ml) of blood weekly or biweekly, as tolerated, until ferritin levels drop below 50-100 lg/L 1.
- During treatment, patients should be monitored for complications, including liver disease, diabetes, and heart problems, and managed accordingly 1.
- Patients should also avoid iron supplements, vitamin C supplements, and alcohol, which can worsen iron accumulation 1.
- Regular monitoring of ferritin levels, transferrin saturation, and organ function is essential to prevent serious complications like liver cirrhosis, diabetes, heart problems, and arthritis 1.
- Family members should be screened since the condition is genetic, typically involving mutations in the HFE gene 1.
- The use of MRI for non-invasive quantification of tissue iron overload can guide diagnosis and management, especially in patients without homozygosity for p.C282Y and/or the presence of additional risk factors for hepatic iron overload 1.
- Iron chelation therapy with medications like deferasirox or deferoxamine may be used for patients who cannot tolerate phlebotomy, but this is not the first line of treatment 1.
From the Research
Congenital Primary Iron Overload
- Congenital primary iron overload, also known as hereditary hemochromatosis, is a genetic disorder characterized by excessive iron absorption and accumulation in the body 2, 3.
- The condition can lead to serious health problems, including liver damage, heart disease, and diabetes, if left untreated 3, 4.
Treatment Options
- Phlebotomy, or blood removal, is the primary treatment for hereditary hemochromatosis, but it may not be suitable for all patients, such as those with anemia or poor venous access 2, 5.
- Iron chelation therapy, using medications such as deferoxamine, deferiprone, and deferasirox, can be an effective alternative treatment for patients who cannot undergo phlebotomy 3, 4, 6.
- Deferasirox, an oral iron chelator, has been shown to be effective in reducing iron burden in patients with hereditary hemochromatosis, with significant decreases in serum ferritin, transferrin saturation, and liver iron concentration 4, 6.
Comparison of Treatment Methods
- Erythrocytapheresis, a procedure that removes red blood cells, has been compared to whole blood phlebotomy in patients with hereditary hemochromatosis, with results showing a more rapid initial decline in ferritin levels and a reduced number of procedures per patient, but higher costs and technician time consumption 5.
- Deferasirox has been shown to be well tolerated and effective in reducing iron burden in patients with hereditary hemochromatosis, with significant decreases in serum ferritin, transferrin saturation, and liver iron concentration, and could be a safe alternative to phlebotomy in selected patients 6.