Hemochromatosis

Overview

People with hemochromatosis absorb too much iron from the food they eat. Extra iron is stored in your organs, particularly the liver, heart and pancreas. Too much iron in these organs can lead to serious complications, including liver disease, heart problems and diabetes.

Hemochromatosis is a genetic condition, meaning that it is passed down in families and caused by a specific gene. In most cases, people with this condition develop signs around middle age – typically after age 40 in males and after age 60 in females.

Hemochromatosis causes

This condition is caused by a mutation of the gene HFE that is passed down in families.

Hemochromatosis risk factors

Factors that put you at an increased risk for developing hemochromatosis include:

• Being male
• Having a family history of hemochromatosis
• Having Northern European ancestry
• Having received two copies of a mutated HFE gene (from both of your parents)

Hemochromatosis symptoms

Some people with this condition never experience any symptoms. When they do occur, signs and symptoms of hemochromatosis include:

• Abdominal pain
• Decreased sex drive
• Diabetes
• Fatigue
• Heart failure
• Impotence
• Joint pain
• Liver failure
• Memory problems
• Skin that is bronze or gray
• Weakness

Hemochromatosis diagnosis

Because many symptoms of this condition can mimic other conditions, your specialist will first need to rule out any other conditions that could be causing your symptoms. Once your specialist has ruled out other conditions, you may need to undergo the following specialized blood tests to confirm a diagnosis of hemochromatosis:

• Serum ferritin - this test checks the amount of iron stored in your liver.
• Serum transferrin saturation - this test measures the amount of transferrin (iron bound to protein) that transports iron in your blood. A level greater than 45 percent is considered too high.

You may also undergo genetic testing during the diagnostic process. Genetic testing can determine if you are a carrier of the gene that causes this condition, HFE. If you are a carrier of HFE, your specialist may recommend that your siblings, parents and children also undergo genetic testing. The results of the genetic testing will let them know their risk for developing hemochromatosis.

Hemochromatosis treatment

Your specialist may recommend one or more of the following treatment options for hemochromatosis.

Blood removal

Your specialist may recommend regular blood removal, or phlebotomy, for treatment. Blood removal is very similar to the process for standard blood donation. Your specialist will recommend a blood removal schedule and amount based on your overall health, the severity of iron overload and your age.

Typically, you will initially need removals once or twice a week. It can take up to a year of phlebotomy treatments for iron levels to return to a normal level. Once you have reached healthy levels, you will undergo maintenance treatments, which may involve phlebotomy every two to four months.

Chelation

If you have another condition, such as anemia or heart complications, that prevents you from undergoing blood removal, your specialist may recommend you take medication to remove extra iron. You may take this medication orally as a pill or as an injection in your vein. The process of removing extra iron through your urine or stool is caused chelation.

Lifestyle modifications

Your specialist may also recommend you make certain lifestyle modifications that can reduce the recurrence of hemochromatosis. These changes may include taking iron supplements, not taking vitamin C supplements, not drinking alcohol and not drinking raw fish or shellfish.

When should I seek care?

If you experience any of these symptoms, start by voicing your concerns and symptoms to your primary care provider. From there, your doctor may suggest seeing a liver specialist for more specialized treatment.