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Haemachromatosis Haemachromatosis
Haemachromatosis is a condition in which iron builds up in your body. The most common type of haemachromatosis is genetic. There are 2... Haemachromatosis

by Kimberly Allen RN

Haemachromatosis is a condition in which iron builds up in your body.  The most common type of haemachromatosis is genetic. There are 2 genes that can be involved the most common being the HFE gene or the hemojuvelin gene.  The HFE gene most commonly causes haemachromatosis to develop in adults where as the hemojuvelin gene causes haemachromatosis to develop in teenagers.  It is an autosomal recessive disorder, meaning you have to have inherited a mutated gene from both parents.  However, unlike most inherited disorders, having 2 of the mutated genes that cause haemachromatosis does not guarantee you’ll have the disorder.  Though it does significantly increase your risk of developing haemachromatosis.  Haemachromatosis is more common in caucasians than any other ethnic group and in the US it affects approximately 1 in every 250 caucasians.  It also affects males more frequently than females, also males are more likely to develop symptoms at an earlier age than females.  Females lose iron when they menstruate or when pregnant therefore they store less iron.  However after menopause or should a female have a hysterectomy her risk for developing haemachromatosis increases.
Though iron plays a critical role in many of our body functions too much can cause damage.  As a rule most of us absorb approximately 10% of the iron we consume in the foods we eat.  When our body has the amount of iron needed to function the brain sends signals to the small intestine to decrease the amount of iron being absorbed to prevent the build up of too much.  However, in haemachromatosis your body absorbs up to 30% of the iron consumed.  the body can neither use or eliminate the extra 20% so it is stored in your organs, usually the liver.  As you age you can build up as much as 20 times the normal amount of iron needed.  As the iron builds up it can lead to severe organ damage which can lead to severe chronic diseases like diabetes and cirrhosis and even organ failure.
The most commonly affected organ is the liver because it is the primary storage area for the extra iron.  The extra iron causes permanent scaring in the liver and it can also increase your risk of liver cancer.  The extra iron can also be stored in other organs like the pancreas and even the heart leading to numerous other health issues like diabetes, heart arrhythmia’s and/or congestive heart failure.  Excess iron can also be stored in your skin causing your skin to change color to a bronze or grayish color.
Though you are born with haemachromatosis the symptoms don’t usually develop until later during adulthood, most commonly between 30-50 years of age.  If your haemachromatosis results from the hemojuvelin gene as opposed to the HFE gene symptoms usually develop anywhere from 15-30 years of age.  While some never have symptoms others demonstrate a wide range of symptoms and health issues.  the symptoms of haemachromatosis tend to vary significantly from person to person as well as between men and women.  Unfortunately the early symptoms of haemachromatosis are the same as those for numerous other common disorders making it difficult to diagnose.  However, if you know you have a family history of haemachromatosis and start experiencing fatigue and joint pain pain in your abdomen on the upper right side and have a loss of your normal sex drive be sure to include the information in your history when talking with your Dr.  Women with haemachromatosis may also experience early menopause or abnormal menstruation.
Though there is no cure for haemachromatosis Drs are able to safely treat it by removing blood from your body.  It’s like donating blood except that the purpose is to reduce your iron levels to normal.  In the beginning you may need to have blood removed a couple of times a week until your iron levels get down to with in normal limits.  Then after your levels are down your Dr will set up a schedule to remove blood on a regular basis, usually 406 times a year depending on how rapidly you are building up iron.
If you have a family history of haemachromatosis it’s important to share the information with your Dr early, even before symptoms appear if possible because it’s crucial to treat it before it causes organ damage.

Kimberly Allen is a registered nurse with an AND in nursing. She has worked in ACF, LCF and psychiatric facilities, although she spent most of her career as a home health expert. She is now a regular contributor to, dispensing advice and knowledge about medical issues and questions. You can reach her with any comments or questions at  HYPERLINK “”