Relief for the most common genetic disorder in the United States
Hereditary Hemochromatosis (HH) is a genetic disorder that causes the body to absorb too much iron from food.
HH is typically diagnosed through blood tests that evaluate the amount of iron in a person's blood.
HH is usually treated through blood draws, also known as phlebotomy, which removes excess iron from the body.
The HFE gene controls how the body regulates iron. It produces a protein that helps regulate how much iron is absorbed from food. Mutations in the HFE gene, primarily H63D and C282Y, cause a variety of iron issues.
The H63D mutation in the HFE gene leads to higher levels of iron in the body, which can cause a buildup of iron in organs such as the liver, heart and pancreas. Symptoms may include fatigue, joint pain, abdominal pain and loss of sex drive.
H63D syndrome looks a lot like Wilson's disease, but with iron instead of copper.
Easily aggravated by diet, H63D may make for picky eaters or chronically high saturation levels.
Only one in ten people with two H63D errors will show a tendency to load iron in ferritin.
The C282Y mutation in the HFE gene is the most common cause of hereditary hemochromatosis, a disorder that causes excessive accumulation of iron in the body. Symptoms may include joint pain, fatigue, abdominal pain, and an enlarged liver.
The extremely high ferritin loading in traditional, two-copy C282Y can be dangerous to the delicate cells of the liver.
The telltale symptom is cirrhosis, or liver-scarring, which can begin to occur over 1000 ferritin. Drinking is a particularly bad combination with this genotype.
H63D/C282Y compound heterozygotes have one copy of each HFE gene mutation. They're less likely to develop severe symptoms than those with two C282Y or H63D mutations. Problems can include joint pain, fatigue, and abdominal pain.
The symptoms of the two errors work together fast after a meal, making the compound heterozygote sensitive to iron in food.
Just one copy usually means loading iron 3-5x slower than a double-C282Y. But still loading.