Hemochromatosis
(Iron Overload)

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Medical Author:

Siamak T. Nabili, MD, MPH

Siamak T. Nabili, MD, MPH

Dr. Nabili received his undergraduate degree from the University of California, San Diego (UCSD), majoring in chemistry and biochemistry. He then completed his graduate degree at the University of California, Los Angeles (UCLA). His graduate training included a specialized fellowship in public health where his research focused on environmental health and health-care delivery and management.

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Medical Editor:

Melissa Conrad Stöppler, MD, Chief Medical Editor

Melissa Conrad Stöppler, MD, Chief Medical Editor

Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

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• Hemochromatosis Overview
• Hemochromatosis Causes
• Hemochromatosis Symptoms
• When to Seek Medical Care
• Exams and Tests
• Hemochromatosis Treatment
• Medical Treatment
• Medications
• Diet
• Next Steps
• Follow-up
• Prevention
• Outlook
• Synonyms and Keywords
• Author and Editor
• Read more on Hemochromatosis (Iron Overload) from Healthwise

Hemochromatosis Overview

Hereditary hemochromatosis (HH) is a genetic disorder that causes excess iron retention in the body. This disorder is a common among Caucasians of Northern European origin, affecting almost one in every 250 people.

In normal individuals, the balance of iron concentration in the body is regulated by the amount of iron stored in the body. Iron may be lost in the sweat, shed from the skin, and excreted from the cells in the intestines. Approximately 1 milligram of iron is lost from the body daily via these routes in a healthy individual. More iron can be lost in women during menstruation. Normally, 1 milligram of iron is regained daily by the intestines from dietary sources.

In hemochromatosis, this regulatory mechanism is impaired and an excess amount of iron is absorbed from the intestines regardless of the iron stores already in the body, resulting in iron overload. Because the body does not have a mechanism to rid the excess iron, this imbalance between gains and losses results in accumulation of the extra iron in some of the organs in the body.

The iron overload in hereditary hemochromatosis can affect many organs in the body including the:

• skin,
  
  
• joints,
  
  
• testicles,
  
  
• liver,
  
  
• pancreas,
  
  
• thyroid, and
  
  
• heart.

As a result of this excess iron build-up in the organs, hemochromatosis can be manifested by dysfunction of the involved organ(s). Signs may include:

• brown skin,
  
  
• diabetes mellitus,
  
  
• cirrhosis of the liver,
  
  
• arthritis,
  
  
• heart failure, and
  
  
• sexual dysfunction.

It is important to note that some individuals may not have any signs or symptoms associated with hemochromatosis.

Hereditary hemochromatosis is an autosomal recessive genetic abnormality, meaning that both copies of the involved gene (one from each parent) are abnormal. The genetic abnormality in hereditary hemochromatosis affects the so-called HFE gene which was discovered in 1996.