Understanding Hemochromatosis Hemochromatosis is a disorder in which the body absorbs too much iron. Usually inherited, it can also be caused by repeated blood transfusions, sickle cell anemia, liver disease or alcoholism. Healthy people absorb about 8 to 10 percent of the iron they consume through diet. If you have hemochromatosis, you can absorb four times more iron than normal; over time, you may retain 5 to 20 times the amount of iron the body needs. Untreated, excess iron can accumulate in the liver, heart, pancreas, thyroid and other organs, leading to liver disease, diabetes, heart attack, hypothyroidism and other serious or life-threatening medical conditions.

Symptoms If you inherit two copies of the same mutations can be tested for, nor does The most common complaint is joint mutations, you are a homozygote. If you their presence mean that you will pain. Other symptoms include: inherit two different mutations, you are a experience hemochromatosis. compound heterozygote. The exact muta- • fatigue/lack of energy Treatment • abdominal pain tions determine your likelihood of risk • unexplained weight loss or weight gain for iron overload. Only 1 in 400 people is Treatment aims to remove excess iron • loss of sex drive likely to have genetic mutations in both from the blood and treat organ damage. copies of the HFE gene. • irritability Periodic phlebotomy (therapeutic • bronze or yellowish skin color Diagnosis blood removal) is similar to regular Sometimes there are no symptoms; a Hemochromatosis is usually discovered blood donation but requires a doctor’s routine physical exam or blood test through a routine blood test. Specific order. You may initially need to donate reveals the condition. Because many tests may cover these areas: as often as once or twice a week, then medical conditions can cause similar less often (but still regularly) as iron Transferrin saturation (TS): symptoms, it is important to see your • The levels drop to normal. It is safe to donate doctor for further evaluation. best measure of excess iron storage, to blood banks and hospitals. this blood test measures how much Genetics iron is bound to the protein that If you have hereditary hemochromatosis, Hereditary hemochromatosis is most carries iron in the blood. but have not experienced organ damage, Ferritin: often caused by abnormalities in the • Levels of this protein in phlebotomy can improve issues, like gene HFE, which helps control the the blood indicate how much iron is fatigue and abdominal pain—but other amount of iron absorbed from food. stored in the liver and the chance of issues (joint paint and diabetes) will Everyone inherits two copies of HFE, liver damage. likely be unaffected by treatment. Liver biopsy: one from each parent. Two specific • This allows a physician Recommended dietary changes mutations of this gene account for the to see how much iron is accumulating include consuming less iron and vast majority of iron overload: C282Y and whether there is inflammation or avoiding iron and vitamin C and H63D. (There are also other, less cirrhosis (scarring). Genetic testing: supplements (vitamin C enhances iron common genetic causes.) • This is best used after diagnosis to understand why absorption). If you have liver damage, If you inherit one mutated (altered) copy, someone has hemochromatosis and your doctor may advise you to avoid you are a carrier, or heterozygote. You to determine which, if any, genetic alcohol and raw seafood. will not have hemochromatosis, but you mutations caused it. It is good could pass it on to your children. to remember that not all genetic

Disclaimer/Disclosure: © 2012 Johns Hopkins University. All rights reserved. All information is intended for your general knowledge only and is not a substitute for medical advice or treatment for specific medical conditions. You should seek prompt medical care for any specific health issues and consult your physician before starting a new fitness regimen.