Hemochromatosis is a medical condition where the body absorbs and stores an excessive amount of iron. While iron is a necessary mineral for various bodily functions, too much of it can become toxic. This excess iron builds up in organs and tissues, leading to significant damage and impaired function over time. This condition is often an inherited genetic disorder.
Causes of Iron Overload
The most common reason for iron overload is primary hemochromatosis, also known as hereditary hemochromatosis. This form is directly linked to specific changes in genes, primarily the HFE gene. These genetic changes disrupt the body’s natural ability to regulate how much iron it absorbs from food. Normally, a liver-produced hormone called hepcidin controls iron absorption and storage, but in hemochromatosis, hepcidin’s function is impaired, leading to excessive uptake.
Individuals inherit one HFE gene from each parent, and if both copies contain certain mutations, such as C282Y or H63D, they are at risk of developing the condition. Even with these genetic changes, not everyone will develop severe iron overload or related complications. Secondary hemochromatosis arises from other medical issues, such as certain types of anemia that necessitate frequent blood transfusions, or chronic liver disease.
Symptoms and Health Complications
Symptoms of hemochromatosis often begin subtly and are non-specific, making early diagnosis challenging. Common early indicators include joint pain, persistent fatigue, abdominal discomfort, and generalized weakness. Men often experience symptoms between ages 30 and 50, while women may not show signs until after menopause. In some cases, individuals may have no noticeable symptoms despite elevated iron levels.
As iron continues to accumulate without intervention, it can lead to more severe health complications affecting various organs. The liver is particularly susceptible, with long-term iron deposition potentially causing scarring (cirrhosis), liver failure, and an increased risk of liver cancer. The heart can also be affected, leading to irregular heart rhythms (arrhythmias) or even heart failure. When iron builds up in the pancreas, it can damage the insulin-producing cells, resulting in diabetes. Excess iron can also cause the skin to develop a bronze or grayish discoloration.
The Diagnostic Process
Diagnosing hemochromatosis begins with initial blood tests to screen for iron overload. Two primary tests are serum ferritin and transferrin saturation. Serum ferritin measures the amount of iron stored in the body, primarily in the liver, while transferrin saturation indicates how much iron is bound to transferrin, a protein that transports iron in the blood. Elevated levels in these tests, such as transferrin saturation values greater than 45% or serum ferritin levels above 300 µg/L for men and postmenopausal women (or 200 µg/L for premenopausal women), can suggest iron overload.
If these initial blood tests indicate high iron levels, genetic testing is performed to confirm hereditary hemochromatosis. This test identifies specific mutations in the HFE gene, most commonly C282Y or H63D, which are responsible for the majority of cases. While a liver biopsy was once a standard diagnostic tool, it is now used less frequently. Biopsies are reserved for assessing the extent of liver damage, such as fibrosis or cirrhosis, rather than for initial diagnosis.
Managing Hemochromatosis
The primary goal of managing hemochromatosis is to reduce and maintain healthy iron levels in the body to prevent or minimize organ damage. The standard and most effective treatment is therapeutic phlebotomy, which involves the regular removal of blood. This procedure is similar to blood donation, where a pint of blood is drawn from a vein. Removing blood prompts the body to use its excess iron stores to produce new red blood cells, thereby decreasing overall iron levels.
Initially, phlebotomy may be performed weekly until iron levels return to a normal range. Once iron levels are controlled, a maintenance phase begins, requiring less frequent blood removal, a few times a year for the rest of an individual’s life. In addition to phlebotomy, certain lifestyle and dietary adjustments are recommended as supportive measures. Individuals with hemochromatosis should avoid iron supplements and high-dose vitamin C supplements, as vitamin C can increase iron absorption. Limiting alcohol intake is also advised, especially if liver damage is present, as alcohol can increase iron absorption and stress the liver.