Hemochromatosis - Types, Symptoms, Causes, Diagnosis, Treatment

Hemochromatosis is a genetic disorder that causes excess iron to build up in the body. There are 4 types of hemochromatosis but the most common is classic hemochromatosis, or HHC. HHC is caused by a mutation in the gene HFE. While present in the body before birth, hemochromatosis usually isn’t diagnosed until the patient is much older. HHC was originally believed to be an older man’s disease because it was most often diagnosed in men in their 50s and 60s but now it’s more widely understood and diagnosed earlier in life. Women usually develop symptoms after menopause when the body has stopped shedding excess iron during menstruation.

Symptoms include fatigue, abdominal pain, loss of sex drive, abnormal heart rhythm, diabetes mellitus, cirrhosis, hypothyroidism, infertility, and depression. Testing for HHC is done by testing the blood. A doctor will order a fasting serum iron, serum ferritin, and a total iron binding capacity. These tests can be used to test iron levels and how well the body is able to bind to the iron in the things we ingest. Other testing may be done to look for organ damage. A serum ferritin level of over 1,000 ng /ml can cause serious damage to the liver and possible organ failure if the disease goes untreated. Once HHC is suspected, genetic testing can be done to confirm the diagnosis.

Iron levels can be controlled with diet and therapeutic phlebotomy. While most people can donate blood every 8 weeks, someone with HHC may donate up to 8 times a month. Once a patient gets their iron levels closer to normal (between 50 – 150 ng /ml), maintenance therapy can begin, which can include making a blood donation approximately every 2 to 4 months for life. Some patients may need to give blood more or less often depending on what they eat and how quickly their body absorbs iron. If HHC is diagnosed and treated before major organ damage occurs, a patient can expect to have a normal life expectancy.

HHC isn’t the only kind of hemochromatosis.

Type 2, or juvenile hemochromatosis, causes the similar symptoms in younger people that HHC causes in adults. However, iron accumulation begins sooner in life, and symptoms usually appear between the ages of 15 and 30.

The third type, neonatal hemochromatosis, causes iron to build up quickly in the liver of the developing fetus. While it is currently thought to be an autoimmune disease, it’s not know for sure and unfortunately, those with this type of hemochromatosis usually don’t survive longer than a couple of weeks after birth, if not sooner.

The fourth kind, secondary hemochromatosis, is a form of the disease that is not inherited from the parents and is often referred to as iron overload. This can also be caused as a side effect or symptom of other diseases. People with certain types of anemia or chronic liver disease may need multiple blood transfusions, which can lead to excess iron accumulation.