Overview

Excess iron in the blood, medically known as iron overload or hemochromatosis, occurs when the body stores more iron than it needs. While iron is essential for producing red blood cells and transporting oxygen, too much iron can be harmful. Excess iron gets deposited in vital organs such as the liver, heart, and pancreas, leading to tissue damage and potentially serious health problems. Iron overload can be hereditary or acquired and often develops gradually over time. Early diagnosis and management are crucial to prevent long-term complications and maintain good health.

Causes

There are several causes of excess iron in the blood, including:

• Hereditary hemochromatosis: A genetic disorder caused by mutations in the HFE gene, which leads to increased iron absorption from food.
• Repeated blood transfusions: Patients with conditions like thalassemia or sickle cell anemia may accumulate excess iron due to frequent transfusions.
• Excessive iron supplementation: Overuse of iron tablets or injections without medical supervision can result in dangerously high iron levels.
• Liver diseases: Conditions such as chronic hepatitis or alcoholic liver disease can lead to impaired iron metabolism.
• Certain metabolic disorders: Rare disorders like African iron overload or neonatal hemochromatosis can cause high iron levels.

Symptoms

In the early stages, iron overload may not cause noticeable symptoms. As iron accumulates in the body, the following signs and symptoms can appear:

• Chronic fatigue and weakness.
• Joint pain, especially in the hands and knuckles.
• Abdominal pain or discomfort.
• Bronze or gray skin pigmentation, sometimes called "bronze diabetes."
• Liver problems, including enlargement (hepatomegaly) or cirrhosis.
• Diabetes due to pancreatic damage.
• Irregular heart rhythms or heart failure in severe cases.
• Low sex drive or impotence due to hormonal imbalances.

Diagnosis

Diagnosis of excess iron in the blood involves a combination of clinical evaluation, blood tests, and sometimes genetic testing:

• Serum ferritin test: Measures the amount of stored iron in the body. High ferritin levels suggest iron overload.
• Transferrin saturation test: Indicates how much iron is bound to transferrin in the blood. Levels above 45% often point to iron overload.
• Genetic testing: Helps identify mutations in the HFE gene responsible for hereditary hemochromatosis.
• Liver function tests: Assesses liver health and potential damage caused by excess iron.
• MRI (Magnetic Resonance Imaging): Non-invasive imaging can measure iron deposits in the liver and heart.
• Liver biopsy (less common): A small sample of liver tissue may be analyzed for iron concentration in complex cases.

Treatment

Treatment of iron overload focuses on reducing iron levels and preventing organ damage:

• Phlebotomy (therapeutic blood removal): Regularly drawing blood is the most effective treatment for lowering iron levels in hereditary hemochromatosis.
• Iron chelation therapy: In cases where phlebotomy is not suitable, medications like deferasirox or deferoxamine are used to remove excess iron.
• Dietary changes: Reducing consumption of iron-rich foods (like red meat), avoiding vitamin C supplements (which enhance iron absorption), and limiting alcohol intake.
• Treating underlying conditions: Managing liver disease, diabetes, or heart issues as necessary.
• Regular monitoring: Ongoing blood tests to track ferritin and transferrin saturation levels and adjust treatment accordingly.

Prognosis

The prognosis for individuals with excess iron in the blood is generally favorable when diagnosed early and managed properly. Phlebotomy can effectively lower iron levels, relieve symptoms, and prevent further organ damage. With ongoing treatment and lifestyle adjustments, most people can lead a normal, healthy life.

However, if iron overload is left untreated, it can lead to serious complications such as liver cirrhosis, heart failure, diabetes, and an increased risk of liver cancer. Early detection and consistent management are key to maintaining long-term health and preventing life-threatening consequences.