Understanding Hemochromatosis: A Patient-Friendly Explanation
Hemochromatosis is a genetic condition where your body absorbs too much iron from the food you eat, causing iron to build up in your organs—especially your liver, heart, and pancreas—which can damage them over time if not treated. 1
What Happens in Your Body
Your intestines absorb more iron than they should. Normally, your body has a built-in control system that only absorbs the iron it needs from food. In hemochromatosis, this control system doesn't work properly due to a genetic mutation (most commonly in a gene called HFE), so your intestines keep absorbing iron even when your body already has enough. 1, 2
Iron accumulates gradually over many years. Think of it like a bathtub that's slowly filling up because the drain isn't working properly. Your body has no natural way to get rid of excess iron, so it builds up over time—typically taking 20-40 years before causing problems. 1, 3
The iron deposits mainly in your liver first. As iron levels increase in your blood, the excess iron gets stored in organs, particularly the liver, but also the pancreas (which controls blood sugar) and heart. 1, 3
Why This Matters
Iron buildup can damage your organs. Too much iron is toxic to cells and can cause scarring (fibrosis) and permanent damage (cirrhosis) in your liver, increase your risk of liver cancer, cause diabetes by damaging your pancreas, lead to heart failure, and cause joint pain and arthritis. 1, 3
Men are affected more often than women. Women tend to lose iron through menstrual periods, which provides some natural protection until after menopause. The disease becomes more common with age. 1
Common Symptoms You Might Notice
Fatigue and weakness are the most common complaints, affecting 19-83% of patients. 3
Joint pain and arthritis, particularly in the knuckles and wrists, occur in 13-57% of patients. 3, 4
Skin changes including a bronze or grayish-brown discoloration. 1
Abdominal discomfort, sexual dysfunction in men, and symptoms of diabetes or heart problems may develop in more advanced cases. 1, 3
The Good News About Treatment
This condition is very treatable if caught early. The main treatment is simple: regular blood removal (phlebotomy), similar to donating blood. This removes the excess iron from your body. 1, 5
Early treatment prevents organ damage. If hemochromatosis is diagnosed and treated before cirrhosis or diabetes develops, your life expectancy is completely normal. 1, 3
Treatment is lifelong but straightforward. Initially, you'll have blood removed weekly or every two weeks until iron levels normalize. After that, you'll need maintenance blood removal every few months to keep iron levels in a safe range. 1, 6
Important Points to Remember
This is a genetic condition, meaning you inherited it from your parents. It's most common in people of Northern European (Celtic or Nordic) ancestry, affecting about 1 in 250 people of European descent. 3, 2
Not everyone with the genetic mutation gets sick. Even if you have the genetic changes, fewer than 10% of people develop serious organ damage, though the reasons for this aren't fully understood. 3, 7
Family members should be tested. Since this is genetic, your brothers, sisters, and children have a higher chance of having the condition and should be screened with blood tests. 1, 3
Avoid iron supplements and excessive vitamin C. Don't take multivitamins with iron or vitamin C supplements (which increases iron absorption), and limit alcohol, which can worsen liver damage. 6, 8