- What Is It?
- Life Expectancy
- How to Prevent
What Is Hemochromatosis?
Hemochromatosis is the accumulation of excess iron in the body. There are two main types of hemochromatosis:
- Hereditary (primary) hemochromatosis is a common autosomal recessive genetic disorder and the most common cause of severe iron overload, in which excess iron accumulates in the body’s tissues.
- Secondary hemochromatosis is brought on by other medical disorders that result in a buildup of iron.
What Are Symptoms of Hemochromatosis?
Many patients with hereditary hemochromatosis may have no symptoms or may have general symptoms that do not seem specific to iron overload.
Early symptoms of hemochromatosis include:
- Severe fatigue
- Joint pain/arthritis
- Enlarged liver (hepatomegaly)
- Skin bronzing or hyperpigmentation
Other signs and symptoms of hemochromatosis include:
What Causes Hemochromatosis?
Hereditary (primary) hemochromatosis is an inherited disorder caused by genetic mutations, usually in the HFE gene ("H" stands for hereditary or "high"; "Fe" is the chemical symbol for iron). In most cases, a defective gene is inherited from both parents.
Secondary hemochromatosis is caused by other medical disorders that result in a buildup of iron in the body such as:
How Is Hemochromatosis Diagnosed?
Many patients with hemochromatosis are asymptomatic and are diagnosed when elevated iron levels are found on routine blood tests.
Tests that may be used to help diagnose hemochromatosis include:
- Genetic testing: Examination of HFE mutations (C282Y, H63D)
- Transferrin saturation levels
- Serum ferritin studies
- Hepatic iron concentration
- Electrocardiogram (ECG) can note supraventricular arrhythmias are often revealed on ECGs
- Chest X-rays and echocardiography may help evaluate patients with hemochromatosis and cardiac disease
- MRI might be helpful to help quantify hepatic iron levels
Other procedures that may be used to diagnose patients with hemochromatosis include:
What Is the Treatment for Hemochromatosis?
The goal of treatment in patients with hemochromatosis is to remove excess iron from the body before it can cause tissue damage.
- Phlebotomy is the primary recommended treatment for hemochromatosis. Phlebotomy involves the removal of blood, similar to the process when one donates blood, to help rid the body of excess iron and to maintain normal iron stores.
- Chelation therapy involves the use of medications to remove heavy metals such as iron from the body. This treatment is used in patients with hemochromatosis and heart disease, anemia, or poor venous access. Chelating agents include:
- Surgery is used to treat complications of hemochromatosis
- End-stage liver disease requires orthotropic liver transplantation
- Severe arthropathy (joint disease) may require arthroplasty (joint repair) if joint destruction becomes severe
What Are Complications of Hemochromatosis?
Complications of hemochromatosis include:
What Is the Life Expectancy for Hemochromatosis?
Most patients who have hemochromatosis have a normal life expectancy.
Patients who develop cirrhosis or diabetes mellitus may have shortened lifespans.
How Do you Prevent Hemochromatosis?
Taking iron supplements increases iron in the blood, and taking vitamin C supplements increases iron absorption in the blood, so if you have been diagnosed with hemochromatosis you may be able to prevent complications by adjusting iron and vitamin C intake. Talk to your doctor about any supplements you take.