Genetics Northern California

Hereditary Hemochromatosis

What is hereditary hemochromatosis (HH)? 
How common is hereditary hemochromatosis? 
What causes hereditary hemochromatosis? 
How is hereditary hemochromatosis diagnosed? 
How is hereditary hemochromatosis treated? 
Can hereditary hemochromatosis be prevented? 
Where can I get more information about hereditary hemochromatosis?

What is hereditary hemochromatosis?
Hereditary hemochromatosis (HH) is an inherited condition that causes too much iron to be stored in the body. In some people with HH, iron stores in the body can reach levels that cause medical problems. However, medical problems do not occur in most people and are unlikely to happen before middle age (40 to 60 years old). Both men and women can have this condition, but men are more likely to develop symptoms and have symptoms start earlier.

Medical concerns with hereditary hemochromatosis
Most people never develop medical concerns related to HH. However, if iron levels get too high it can lead to:
- Fatigue
- Joint pain
- Liver problems
- Heart disease
- Hormone problems
- Diabetes
- Changes in skin color (“bronzing”)

How common is hereditary hemochromatosis?
It is estimated that one in every 300 European (White/Caucasian) people have inherited a gene combination that could cause HH. Fortunately, most of these people never develop health problems from too much iron.

What causes hereditary hemochromatosis?
Hereditary hemochromatosis is caused by mutations (genetic changes) in a gene called HFE. Every person has two copies of the HFE gene, one copy from each parent. A genetic mutation in both copies of the HFE gene increases the amount of iron absorbed by the body and makes iron overload more likely to happen. This is called autosomal recessive inheritance. Persons with just one mutation in an HFE gene are HH “carriers” and never develop iron overload unless there are other factors present. The chance to carry a single mutation in the HFE gene depends on a person’s ancestry and family history.

How is hereditary hemochromatosis diagnosed?
There are two types of testing done to diagnose HH.
- Iron studies: Testing usually includes several blood tests done at the same time: serum iron; total iron-binding capacity (TIBC); transferrin saturation (TS); ferritin. These blood tests measure the amount of iron in a person’s body.
- Genetic testing: Genetic testing looks for the two most common mutations in the HFE gene: C282Y and H63D.
Hereditary hemochromatosis is diagnosed when a person has high iron levels and also has two mutations in the HFE gene.

How is hereditary hemochromatosis treated?
Not everyone with hereditary hemochromatosis needs treatment. Treatment is started when iron tests reach critical levels, even in people with no symptoms. When treatment is needed, removing blood from the body is the best way to remove excess iron. Medical blood donation (phlebotomy) is done under the supervision of a health care provider.

Can hereditary hemochromatosis be prevented?
Medical problems related to HH can be prevented by early diagnosis and keeping iron levels in a safe range.

Where can I get more information about hereditary hemochromatosis?
Hereditary Hemochromatosis: A handout created by the KP Genetics Department that offers more details about HH and genetic testing for this condition.
Genetics Home Reference: Hemochromatosis - A guide to hemochromatosis provided by the U.S. National Library of Health. Includes additional links.
Hemochromatosis.org - A website with general information about hemochromatosis developed by the Iron Disorders Network.

Last reviewed: January 26, 2018 
Reviewed by: Kimberly Barr, LCGC and David Witt, MD