From the Guidelines
An iron saturation of 90% is significantly elevated and requires immediate medical attention, indicating a potential diagnosis of hemochromatosis, which can lead to serious complications if left untreated, including liver cirrhosis, diabetes, heart failure, and joint pain. This condition is characterized by the body absorbing too much iron from food, resulting in iron overload in organs like the liver, heart, and pancreas 1.
Diagnosis and Treatment
The diagnosis of hemochromatosis typically involves a combination of genetic testing, serum iron parameters, and imaging studies like MRI to assess tissue iron concentrations 1. Treatment usually involves therapeutic phlebotomy, which is the removal of blood to reduce iron levels, initially performed weekly until iron levels normalize, and then maintenance sessions every 2-4 months 1. Each phlebotomy session removes about 500 ml of blood, containing approximately 250 mg of iron.
Dietary Modifications and Medication
Dietary modifications are also crucial, including limiting iron-rich foods, vitamin C supplements (which enhance iron absorption), and alcohol (which can worsen liver damage) 1. Medication options, such as iron chelators like deferasirox (Exjade) at 20-40 mg/kg daily, may be considered if phlebotomy is not tolerated 1.
Monitoring and Follow-Up
Regular monitoring of iron studies, liver function, and other affected organs is necessary throughout treatment to prevent organ damage and ensure the effectiveness of the treatment plan 1. This includes monitoring serum ferritin levels, which should be maintained within a target range of 50-100 lg/L during the maintenance phase, and transferrin saturation levels, which should be kept below 50% 1.
Key Considerations
It's essential to note that the management of hemochromatosis requires a comprehensive approach, considering both the reduction of iron overload and the prevention of related complications. The frequency of phlebotomy sessions and the monitoring of iron parameters should be tailored to the individual patient's needs and response to treatment 1. Additionally, the potential for iron deficiency during treatment should be monitored, and adjustments made as necessary to avoid unnecessary bloodletting or iron deficiency 1.
Given the potential for serious complications associated with untreated iron overload, prompt medical evaluation and initiation of appropriate treatment are critical. Patients should work closely with their healthcare provider to develop a personalized treatment plan and to monitor their condition regularly to prevent long-term damage.
From the Research
Iron Saturation at 90%
- Iron saturation is calculated by dividing the serum iron level by the total iron-binding capacity (TIBC) and multiplying by 100 2.
- A iron saturation of 90% or higher may indicate iron overload, which can cause damage to internal organs such as the liver, heart, and pancreas 3, 4, 5, 6.
- Iron overload can be caused by various factors, including frequent blood transfusions, genetic disorders such as beta-thalassemia, and excessive iron intake 3, 4, 5, 6.
- Treatment for iron overload typically involves iron chelation therapy, which uses medications such as deferasirox to remove excess iron from the body 3, 4, 5, 6.
- Deferasirox has been shown to be effective in reducing iron burden and preventing cardiac iron overload in patients with beta-thalassemia 4, 6.
- The efficacy and safety of deferasirox have been evaluated in several studies, including a prospective, randomized, placebo-controlled study (THALASSA) in patients with non-transfusion-dependent thalassemia 5.
Diagnosis and Treatment
- Iron deficiency is diagnosed by low serum ferritin (typically <30 ng/mL) in individuals without inflammatory conditions or by transferrin saturation (iron/total iron binding capacity × 100) less than 20% 2.
- Oral iron is typically first-line therapy for iron deficiency, while intravenous iron is indicated for patients with oral iron intolerance, poor absorption, or certain chronic inflammatory conditions 2.
- Iron chelation therapy, such as deferasirox, is used to treat iron overload, and its efficacy and safety have been evaluated in several studies 3, 4, 5, 6.
Complications of Iron Overload
- Iron overload can cause various complications, including cardiac iron overload, which can lead to heart failure and arrhythmias 6.
- Iron overload can also cause liver damage, pancreatic damage, and increased risk of infections 3, 4, 5.
- Early diagnosis and treatment of iron overload are crucial to prevent these complications and improve patient outcomes 2, 3, 4, 5, 6.