Hereditary Hemochromatosis
Hereditary Hemochromatosis is a genetic disorder that causes too much iron to accumulate in the blood. Sometimes called the “Iron Overload” or “Bronze Diabetes,” it is a condition that over time leads to an excess build up of iron damaging the skin, joints, heart, pancreas and liver.
The first symptoms that someone may recognize are fatigue, weight loss, belly pain and joint pain. As it progresses, people experience discoloration of the skin, diabetes, heart problems, liver cirrhosis and even liver cancer.
The speed at which the disease progresses depends, in part, on lifestyle and diet along with alcohol consumption.
There are four types of Hereditary Hemochromatosis, and they are defined by the specific gene that is associated with it and the age of the onset of the disease process.
Type 1 (HFE gene) and Type 4 (SLC4081 gene) – These occur in adulthood. Known as Ferroportin Disease, men develop symptoms between 40 – 60 years old and women usually have symptoms after menopause.
Type 1 is the most common of the 4 types, impacting about 1 million Americans who are of Northern European dissent.
Type 2 (HJV or HAMP genes) – This is known as a juvenile disorder as symptoms begin in childhood. By the age of 20, there is a decrease in sex hormones, leaving young women who may have begun with normal menstrual cycles finding that they stop and in young men there is a delay of puberty. Untreated, Type 2 leads to potentially fatal heart disease by the age of 30.
Type 3 (TFR2 gene) – This onset occurs between the juvenile onset and the Type 1 adult onset timeframe.