Hereditary hemochromatosis (hee-muh-kro-muh-TOE-sus) is a genetic disease that causes the body to absorb and store too much iron.
Iron is an important nutrient that our bodies get from food. It's in every red blood cell and is the main component of hemoglobin, the substance in red blood cells that carries oxygen away from the lungs to the rest of the body.
About Hemochromatosis
In hemochromatosis, the body absorbs about twice as much iron as it should. This excess iron can't leave the body. Instead, it's stored in the joints and major organs such as the liver, heart, brain, pancreas, and lungs. Over time, this iron can build to toxic levels that can cause diabetes and damage or even destroy an organ.
Even though kids are born with hemochromatosis, the very slow buildup of iron means that it might not be diagnosed until adulthood, when symptoms begin.
Therapies and diet changes can help slow the progression of the disease. That's why it's especially important for kids with a family history of hemochromatosis to be tested early on.
Causes
Hereditary hemochromatosis is caused by a mutation in a gene that controls how much iron the body absorbs from food. It's actually fairly common, affecting about 1 in 200 people. The disease is considered "autosomal recessive," which means that someone must have two copies of the mutated gene — one from each parent — to get it.
In the United States, 1 out of every 8 to 10 people has one copy of the mutated gene. These people are carriers — they can pass the gene on to their children but won't get the disease. Many people who inherit two mutated genes will absorb extra iron, but only some will absorb enough to cause health problems.
Carriers and other people who don't have hereditary hemochromatosis can still have iron build up if they have another genetic defect or a health problem that affects iron absorption, such as alcohol abuse or hepatitis, an inflammation of the liver.