What is Hemochromatosis? 

Hemochromatosis is a hereditary condition in which the body absorbs an excessive amount of iron from the food that is consumed and processed. Iron plays a key role in important bodily functions, such as the production of blood. Excess iron, however, is toxic to the body. When iron reaches levels of toxicity, the result can be chronic diseases such as diabetes, cirrhosis, heart failure, and organ failure. This is not to be confused with hemosiderosis, which often occurs when red blood cells break down excessively within an organ and cause iron overload.

 

However, unlike hemochromatosis, hemosiderosis does not cause organ damage.

What Causes Hemochromatosis?

Hemochromatosis is caused by a mutation of the HFE gene. The most common mutations are C282Y and H63D. Hemochromatosis is relatively common with one million sufferers across the United States. Risk factors for hemochromatosis include:

  • Being of Northern European descent 

  • Having a family history of the disease (especially a parent or sibling)

  • Being a male

  • Having two copies of a mutated HFE gene 

 

What are the Symptoms of Hemochromatosis?

Symptoms of hemochromatosis include but are not limited to:

  • Fatigue

  • Weakness

  • Low or no sex drive

  • Diabetes

  • Joint pain (arthritis)

  • Abdominal Pain 

  • Foggy memory

  • Impotence

  • Heart and/or liver failure

  • Ashy or gray skin pallor 

  • Eye disease (rare, but when it does occur it typically affects the retina)

It is important to note that, although hemochromatosis is present at birth, symptoms often do not appear until after the age of 40 for men and 60 for women.

 

How is Hemochromatosis Diagnosed?

Hemochromatosis is tricky to diagnose due to symptoms appearing later in life as well as the symptoms overlapping with various other potential illnesses and diseases. The most accurate form of diagnosis involves blood testing, most commonly: 

 

  • Serum transferrin saturation: This blood test determines the amount of iron in your blood.

  • Serum Ferritin: This blood test determines the amount of iron stored in the liver.

Because high levels of iron are not exclusive to hemochromatosis, further testing can include: 

  • MRI: This can accurately determine the level of iron in the liver.

  • Liver function tests: A number of exams can determine the health and functionality of the liver.

  • Liver biopsy: A tissue sample is taken from the liver and sent to a lab for analysis. Specifically looking for liver damage, scarring, or cirrhosis. 

  • Gene mutation test: DNA testing can determine if HFE gene mutations are present. 

What is the Treatment for Hemochromatosis?

The most common form of treatment for hemochromatosis involves phlebotomy or blood removal. This is the same process one would undergo when having their blood drawn for exams or donations. By removing blood from the body on a regular schedule, iron levels are reduced. How much blood is removed and how often depends on various factors such as age, overall health, and the degree of iron overload. Once iron levels return to normal, there can be greater periods of time between phlebotomy sessions.

Individuals who have not yet developed joint pain or cirrhosis can prevent these symptoms from developing by undergoing blood removal. For those who already have these symptoms, they cannot be reversed using this method but their progression can be slowed. Phlebotomy can also reverse or slow the progression of several of the chronic diseases brought on by hemochromatosis such as diabetes, heart disease, and liver disease. Individuals that cannot undergo blood removal due to other underlying conditions may be placed on a medication regimen to remove excess iron from their blood.

In addition to phlebotomy, the following lifestyle changes can be beneficial:

  • Do not consume iron supplements 

  • Do not consume Vitamin C supplements 

  • Do not consume alcohol

  • Do not consume raw seafood or shellfish 

Failure to treat hemochromatosis can be fatal, therefore it is important to maintain a consistent treatment regimen. 
 

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