Monday, July 21, 2014

Hemochromatosis: Iron Overload

After reading about human genetic disorders and hemoglobin, I realized that I have been affected by something similar to the others discussed. I am a carrier for hemochromatosis, which is when there is too much iron in the blood, and my brother and sister both have hemochromatosis. If there is too much iron in the blood, it can lead to damaged organs especially liver damage.

There are three different types of hemochromatosis including primary hemochromatosis, secondary hemochromatosis, and neonatal hemochromatosis. The primary hemochromatosis is inherited from parents. In order to have the disease, you must have one mutated gene from each parent, as it is a recessive genetic disorder. The mutated gene is the HFE gene which regulates the amount of iron absorbed from foods. There are two specific mutations in this gene C282Y and H63D with C282Y being the most common cause, however it is possible to have one allele of each or both of one type. Primary hemochromatosis is the most common form with about 90% of cases being primary. Secondary hemochromatosis is not inherited but is typically given to someone who has many blood transfusions due to severe anemia. Secondary hemochromatosis does not cause as much liver damage as primary. Finally, neonatal hemochromatosis is the most rare form and is characterized by liver failure and death in fetuses and newborns. As you may have guessed, I am a carrier of primary hemochromatosis.

There are many different symptoms and ways doctors diagnose this disease, however, sometimes symptoms may not even show, as was the case for my sister and brother. Because the symptoms do not always show, some people may never even be diagnosed with the disease. The symptoms include joint pain, fatigue, unexplained weight loss, abnormal bronze or grey skin color, abdominal pain, and/or loss of sex drive. Since these symptoms do not always show, there are different ways doctors diagnose this including family and medical history, physical exam, liver biopsy, or blood tests. I learned I had the disease when my sister had to get many medical tests including blood tests done for something and discovered she had it. Then, due to medical history, my family all had to be tested and we discovered my brother also had it, while my other sister and I were carriers.

As with most diseases, there are many complications associated with hemochromatosis including cirrhosis (scarring of liver tissue), diabetes, irregular heart rhythms, arthritis, or erectile disfunction. Liver damage is the most common. However, there is no specific cure for hemochromatosis, there is only treatment. Since there is too much iron in the blood, the treatment is too draw blood (phlebotomy) 2-3 times a week or monthly, depending on the severity. Women with the disease do not typically begin treatment until after menopause because they are already losing blood monthly, which is also a reason that women do not experience symptoms until they are older as often as men. Along with the treatment, people with hemochromatosis should try to avoid foods high in iron like red meats because a normal person will only absorb 10% of the iron whereas a person with hemochromatosis will absorb up to 30% of the iron.

Although there is no cure, hemochromatosis is not a life threatening disease as long as it is diagnosed early in life so that people can properly treat it. Luckily, my brother and sister found out early in their life and are able to draw blood monthly to prevent the complications that come along with hemochromatosis. I will also test my children in the future when I have them to ensure they take proper precautions as well.


-Alexandra Grund
July 21, 2014


  1. It was very interesting to learn that women don't show as many signs of the disease as men and that it was because of their menstrual cycle. How old was your sister and your when you found out about the disease? Besides drawing blood are there anything else that is done as a treatment? Do they have to draw a lot of blood each time? This was very interesting to read!

  2. You named a couple of different mutations that cause the disease. The notation you used, such as C282Y simply means that the 282nd amino acid in the protein, cysteine, has become a tyrosine. The C and Y are the single letter codes for these two amino acids.

  3. This post was very interesting to read as I have never heard of this before. It is very beneficial that you and your siblings are aware of this and can take medication to control it.