> Hemochromatosis

• Alternative Names
• Symptoms & Characteristics
• Treatment
• How Common Is It?
• Genetics & Inheritance
• Genetic Testing
• Support & More Information

Alternative Names

Bronzed cirrhosis; Bronze Diabetes; Familial Hemochromatosis; genetic hemochromatosis; Haemochromatosis; HC; Hemochromatoses; HH; HLAH; Iron storage disorder; Pigmentary cirrhosis; Primary Hemochromatosis; Troisier-Hanot-Chauffard syndrome; Von Recklenhausen-Applebaum disease

Symptoms & Characteristics

Hemochromatosis is a condition that causes an excessive build up of iron in the body. The body normally absorbs iron from many foods. Someone with hemochromatosis absorbs more iron than the body needs or can use. The body has no natural way to get rid of the extra iron, so it builds up in tissues and organs, like the liver, heart and pancreas. The extra iron can cause organ damage and if untreated, may be life-threatening.

Early symptoms are often non-specific and may include:

• fatigue

• joint pain

• abdominal pain

• loss of sex drive and impotence

Later symptoms may include:

• liver disease

• diabetes

• heart abnormalities

• skin problems ("bronzing" or darkening of the skin)

Hemochromatosis is classified by type depending on the age of disease onset and other factors such as genetic cause and pattern (mode) of genetic inheritance.

• Type 1, the most common form of the disorder, has symptom onset about 40 to 60 years old. The symptoms vary greatly from mild and non-specific to severe. Some people with type 1 never even experience symptoms in their lifetime. Many health professionals believe that type 1 is often underdiagnosed.

• Type 2 has symptom onset in childhood, before 20 years old.

• Type 3 has symptom onset between types 1 and 2 (before 30 years old).

• Type 4 (also called ferroportin disease) has symptom onset similar to type 1.

• Neonatal hemochromatosis, a rare form of the condition, has symptom onset before birth and progresses very rapidly. Liver damage may be apparent even at birth.

The appearance and progression of symptoms can be affected by various lifestyle and environmental factors such as drinking alcohol, infections, and eating food rich in iron (like red meat).

Treatment

There is currently no cure for hemochromatosis. Treatment may include removal of blood (called therapeutic phlebotomy), a diet low in iron, and medications.

How Common Is It?

Type 1 hemochromatosis affects over 1 million Americans and is one of the most common genetic diseases in the United States.

• Type 1 is most common in Caucasians of Northern European descent.

• About 10-15% of cases of diabetes are due to hemochromatosis.

Genetics & Inheritance

The different types of hemochromatosis are caused by mutations in different genes.

We all have two copies of most genes- one from each parent. In types 1, 2, and 3, it is necessary to have two mutations, one in each gene copy, to be affected with hemochromatosis. This is called autosomal recessive inheritance.

• Both parents of an affected person are obligate carriers (each have only one mutation). Two carriers have a 25% chance with each pregnancy to have an affected child, but typically do not have symptoms themselves.

• Without a family history, the chance to be a carrier is determined by a person's ethnic background. For example, for type 1, about 1 in 8 Caucasians are carriers, while the chance is even greater for people of Celtic Origin, 1 in 4.

• People with type 1 are also at increased risk to develop a form of porphyria called porphyria cutanea tarda.

In type 4, having only one mutation in a single gene is sufficient to cause the disease. This is called autosomal dominant inheritance.

• In these families, an affected person has a 50% chance with each pregnancy to have an affected child.

The genetic cause and pattern of inheritance of neonatal hemochromatosis is not known at this time.

There are many other genetic conditions, which have symptoms that overlap with hemochromatosis. A genetic consultation with a trained genetic professional is important for a complete evaluation, accurate diagnosis, as well as discussion of the benefits and limitations of testing and recurrence risk.

Genetic Testing

Clinical genetic testing for hemochromatosis can be broken down into two categories: diagnostic testing and carrier testing.

• Diagnostic testing may be used to confirm or rule out a clinical diagnosis in a person suspected to have the disorder.

• Carrier testing for types 2 and 3 is typically offered after a clinical diagnosis and/or mutations have already been identified in an affected family member(s). Carrier testing for type 1 is widely available for the two common mutations, C282Y and H63D, in the HFE gene. Some labs add a third rare mutation to the list. As only a few mutations are tested for, if a person has negative carrier testing, their chance to be a carrier is greatly reduced, but never actually zero.

Clinical genetic testing for type 1 hemochromatosis is available online (over the internet) or through an in person genetic consultation. Go to the Tests tab to link to the best providers, compare providers and read provider reviews.

Clinical genetic testing for type 2, 3 and 4 are available through an in person genetic consultation for people who are considered at risk. Use our find a genetic professional directory to locate a trained genetic professional in your area.

• A medical geneticist can also be found at the American College of Medical Genetics website.

• A genetic counselor can also be found at the National Society of Genetic Counselors website.

Support & More Information

More information can be found at:

• Genetics Home Reference
• MedlinePlus

Support can be found at:

• American Hemochromatosis Society
• Iron Overload Diseases Association