What are the symptoms of hemochromatosis (iron overload)?

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Last updated: February 26, 2025View editorial policy

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From the Guidelines

Iron overload symptoms include chronic fatigue, joint pain, and diabetes, which can evolve towards end-organ failure, particularly affecting the pancreas and liver 1. The symptoms of hemochromatosis, a condition characterized by iron overload, are non-specific and can vary in severity.

  • Common symptoms include:
    • Chronic fatigue
    • Joint pain
    • Diabetes
    • Abdominal discomfort
    • Irregular heartbeat
    • Bronze-colored skin
  • These symptoms appear gradually as excess iron builds up in organs like the liver, heart, and endocrine glands, causing progressive damage. The most common causes of iron overload are hereditary hemochromatosis, other rare genetic disorders, and secondary to repeated transfusion, as may occur in thalassemia and other conditions 1. Early detection is crucial since organ damage can be prevented by treatment, which typically involves regular phlebotomy (blood removal) to reduce iron levels and prevent further organ damage. It is essential to note that iron overload can be hereditary or result from multiple blood transfusions, certain anemias, or excessive iron supplementation, and a healthy diet, avoiding iron and vitamin C supplementation and heavy alcohol consumption, can help reduce iron accumulation and prevent or limit organ damage and disease complications 1.

From the Research

Symptoms of Hemochromatosis (Iron Overload)

The symptoms of hemochromatosis, also known as iron overload, can be severe and affect multiple organ systems. Some of the possible symptoms include:

  • Multiorgan system toxicity 2
  • Hepatic fibrosis, arrhythmias, and congestive heart failure 3
  • Endocrinopathies 3
  • Organ damage and increased mortality 4

Causes and Classification of Iron Overload

Iron overload can be classified based on different criteria, including:

  • Route of access of iron within the organism (enteral, parenteral, or placental route) 4
  • Predominant tissue site of iron accumulation (parenchymal or reticuloendothelial storage areas) 4
  • Cause of the overload (primary or secondary to other congenital or acquired conditions) 4

Diagnosis of Iron Overload

Diagnosis of iron overload can be suspected based on:

  • Clinical data 4
  • High transferrin saturation and/or serum ferritin values 4
  • Liver biopsy to define the amount and distribution of iron within the liver 4
  • Analysis of HFE gene mutations (C282Y and H63D) 4

References

Guideline

Guideline Directed Topic Overview

Dr.Oracle Medical Advisory Board & Editors, 2025

Research

Etiologies, consequences, and treatment of iron overload.

Critical reviews in clinical laboratory sciences, 1994

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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