Iron, Ferritin, and Hemochromatosis: Understanding the Iron Storage Disease

By SWA

Hemochromatosis is a hereditary disorder characterized by excessive absorption and storage of iron in the body. At the heart of this condition is ferritin, the protein that stores iron. When ferritin levels rise too high, it can signal an overload of iron, which, if untreated, can damage organs and lead to serious health complications.

What Is Hemochromatosis?

Hemochromatosis, often referred to as an iron storage disease, occurs when the body cannot adequately regulate iron absorption. Normally, the body absorbs just enough iron from food to meet its needs. However, in individuals with hemochromatosis, this regulation is impaired—resulting in excess iron being stored in organs such as the liver, heart, pancreas, and joints.

Over time, this buildup can cause organ dysfunction and chronic health issues.

Symptoms of Hemochromatosis

Hemochromatosis often develops slowly and can remain asymptomatic for years. When symptoms do appear, they are frequently vague or mistaken for other conditions. Common signs include:

  • Fatigue and weakness – Often the earliest and most general symptom.

  • Joint pain – Especially in the hands, but also in other joints.

  • Skin changes – A bronze or grayish skin pigmentation.

  • Liver issues – Enlargement, cirrhosis, or even liver cancer in severe cases.

  • Diabetes – Due to iron accumulation in the pancreas.

  • Heart complications – Including arrhythmias, heart failure, and cardiomyopathy.

  • Reproductive issues – Such as erectile dysfunction in men or amenorrhea (absent menstruation) in women.

  • Thyroid dysfunction – Occasionally, hypothyroidism can develop.

Iron and Ferritin in the Body

Ferritin is a protein that stores iron, primarily in the liver, and releases it when needed. In people with hemochromatosis, ferritin levels in the blood often exceed normal values due to excess iron.

  • Normal ferritin values:

    • Women: below 200 µg/L

    • Men: below 300 µg/L

  • Hemochromatosis: Ferritin levels may exceed 500 µg/L, especially in symptomatic patients.

Ferritin alone is not sufficient for diagnosis, as levels can also be elevated in liver disease, infections, or cancers.

Another key marker is transferrin saturation, which measures how much iron is bound to transferrin (a blood protein that transports iron):

  • Saturation > 45% (women) or > 50% (men) indicates possible iron overload.

Causes and Genetics

The most common form of hemochromatosis is hereditary hemochromatosis (type 1), caused by mutations in the HFE gene. The most frequent mutation is C282Y. The disease follows an autosomal recessive inheritance pattern, meaning both parents must carry a defective copy of the gene for their child to be affected.

  • Prevalence:

    • Common in people of European descent.

    • Around 1 in 200 to 1 in 500 people are affected.

    • 5–10% are carriers but usually do not develop the disease.

Diagnosis

Diagnosis includes:

  • Blood tests: Ferritin and transferrin saturation.

  • Genetic testing: Confirms mutations in the HFE gene.

  • Liver tests and imaging: To assess potential organ damage.

  • Screening: Especially recommended for people with a family history or unexplained high iron levels.

Treatment

The standard treatment for hemochromatosis is therapeutic phlebotomy (regular blood removal), which helps reduce iron levels. Other measures include:

  • Avoiding iron supplements and multivitamins with iron.

  • Reducing intake of iron-rich foods such as red meat, liver, and fortified grains.

  • Limiting Vitamin C supplements, as they enhance iron absorption.

  • Avoiding alcohol, which can worsen liver damage.

Iron-Rich Foods to Watch

Individuals with hemochromatosis should monitor their consumption of:

  • Animal sources: Red meat (beef, lamb), liver, and some fish.

  • Plant sources: Spinach, legumes (lentils, soybeans), nuts, whole grains (oats, quinoa, amaranth).

  • Vitamin C-rich foods: Citrus fruits, peppers – though healthy, they enhance iron absorption when consumed with iron-rich meals.

Ferritin and Blood Pressure

Iron overload can also influence cardiovascular health. Elevated ferritin levels have been associated with:

  • Increased blood pressure: Due to vascular and organ damage.

  • Decreased blood pressure: In contrast, iron deficiency can lead to anemia and low blood pressure.

Phlebotomy not only reduces iron levels but can help regulate blood pressure in some cases.

Conclusion

Hemochromatosis is a serious but manageable condition if diagnosed early. Key indicators include elevated ferritin and transferrin saturation levels, often confirmed with a genetic test. Without treatment, iron overload can cause irreversible damage to vital organs.

If you suspect you may have symptoms or a family history of the disease, it's important to consult a doctor for appropriate screening. Early intervention, especially through regular blood donation or phlebotomy, can prevent complications and greatly improve quality of life.

Reference: 

Publications 119 citations
https://www.ncbi.nlm.nih.gov/snp/rs1799945#publications

Exemple:

© 2000-2025 Sieglinde W. Alexander. All writings by Sieglinde W. Alexander have a fife year copy right.
Library of Congress Card Number: LCN 00-192742 ISBN: 0-9703195-0-9

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