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February 11, 2013 at 11:00 AMComments: 2 Faves: 0

Hemochromatosis: A Common and Under-recognized Disease

By Jeffrey VanWingen M.D. More Blogs by This Author

Genetics amaze me. In truth, we are but expressions of the seemingly infinite permutations of the molecules that make up our DNA. It's even more amazing to consider that these codes work out most of the time to yield a well-functioning, unique individual. One small blip in this code, however, can cause serious consequences. Sometimes this blip not only causes problems, but also gets passed on to the next generation. Many of these diseases are well known: sickle cell disease, cystic fibrosis, and muscular dystrophy, for example. One that is under-recognized and causes an array of problems is called hereditary hemochromatosis. This disease is easily treatable and, if recognized early, can prevent the onset of serious disease. 

The Problem of Hemochromatosis

Hemochromatosis is inherited as a recessive trait. In other words, the trait needs to come from both parents to cause full disease. The disease is more prevalent in Caucasian populations, particularly those in northern Europe (or of northern European descent) where estimates are as high as one in 150 persons.

The genetic defect causes a problem in the metabolism of iron. In a normal state, we eat iron and it is used in red blood cells in the hemoglobin molecule to transport oxygen to living tissues. Regulatory mechanisms keep the amount of iron in a normal flux within the body. In hemochromatosis, however, the regulation is dysfunctional, causing a high amount of iron uptake from food eaten into the body. 

When there is too much iron in the body to be used for hemoglobin, the iron is deposited into various organs within the body,such as muscle and the liver. Progressive iron overload can lead to liver failure (cirrhosis), diabetes, rhythm disorders of the heart, heart failure, muscle pain, and fatigue. Those with hemochromatosis who develop liver failure can progress to liver cancer at a high rate.


Treatment of Hemochromatosis

Interestingly, the treatment of hemochromatosis is quite simple, and it could save someone else's life! Getting rid of some iron on a regular basis in the form of donating blood keeps the body from depositing iron into tissues. 


Even though hemochromatosis is common in certain populations and is a cause of some extremely common diseases like diabetes, heart disease, and liver failure, it is under-appreciated as a culprit, as most individuals aren't symptomatic in the earlier stages. Despite relatively simple screening tests, universal screening, even in higher prevalence populations, is not recommended by the U.S. Preventative Task Force (the accepted body that makes screening recommendations in the U.S.). Nonetheless, any possible complication, such as abnormal liver tests, heart abnormalities in function/rhythm, or the myriad other symptoms, should prompt testing.  Early detection can prevent further complications. Further, detection can raise awareness for other family members with shared genetics.

The Bottom Line on Hereditary Hemochromatosis

Hereditary hemochromatosis is an inherited disease of disordered iron metabolism. It's more common in norther Europeans, but can be found in any population. With time, iron deposits in the tissues and organs can cause liver disease, diabetes, heart failure, heart rhythm disorders, fatigue, or muscle pain. The presence of any cues that hemochromatosis may be present should prompt testing. If detected, further iron deposition in the body can be kept at bay with periodic blood donation.

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  • Well are there any signs before you get diagnosed with one of the diseases you mentioned like: sickle cell disease, cystic fibrosis, and muscular dystrophy?

  • Yikes! I'm part Swedish. :/

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