Causes of Hemochromatosis

Hemochromatosis

Primary hemochromatosis is a hereditary disease which is caused by a genetic mutation and affects an estimated 1 million Americans. The disease prevents the body from regulating iron absorption, and if untreated, it can lead to iron overload and severe organ damage. Secondary hemochromatosis develops as a result of a medical condition such as anemia, or from chronic liver disease related to hepatitis C, or alcoholism.

Causes of hemochromatosis Hemochromatosis occurs when a person, because of a gene variation, absorbs excessive amounts of iron from the foods eaten, the cookware used, or other environmental contaminants, such as the soil is which food is grown. This excess iron is stored in the liver, heart, pituitary gland, thyroid gland, and pancreas. “Silent carriers” can pass the disease onto their children, even though they do not have symptoms of the disease themselves.

Symptoms of hemochromatosis The following are symptoms of hemochromatosis:  Abdominal pain  Changed skin pigmentation  Dark urine  Early menopause and infertility  Fatigue  Hair loss  Impaired immune function  Impotence  Joint pain  Menstrual irregularities  Red palms  Sexual dysfunction  Thyroid deficiency  Trouble maintaining/gaining weight  Weakness

Diagnosing hemochromatosis Fasting serum iron, total iron-binding capacity, hemoglobin, hematocrit, and serum ferritin level tests are usually the first step of diagnosis. A genetic test can confirm a diagnosis. After hemochromatosis is diagnosed, a liver biopsy is often used to confirm the diagnosis and assess the extent of damage.

Risks of hemochromatosis Homozygotes (two genes causing hemochromatosis) will die of iron overload without frequent blood donation. The cause of death is usually liver cirrhosis.

If the iron level within the body remains too high for too long a period of time, the following may result:  Adrenal gland and pituitary damage  Arthritis  Cancer  Diabetes mellitus  Gallstones  Heart disease  Hepatomegaly (enlarged liver)  Hypogonadism

A patient with hemochromatosis may develop iron deficiency anemia because of:  An inflammatory disorder  Bone marrow damage  Cancer  Chronic infection  Internal bleeding

In these cases, the patient should not use supplements until the underlying cause of anemia is diagnosed.

Once liver damage has occurred, the risk for future liver cancer is greatly increased, regardless of control of the iron levels following the initial damage.

Iron deposits in the brain tissue are thought to lead to:  Alzheimer’s disease  Epilepsy  Huntington’s disease  Multiple sclerosis  Parkinson’s disease

Treatment options for hemochromatosis The following are treatment options:  Intravenous chelating agents  Weekly phlebotomy for 1 to 3 years if significant iron overload is present, and then maintenance of phlebotomy every few months for the rest of life

Medical nutrition therapy for hemochromatosis Follow these recommendations:  Consume less heme iron, especially from beef, vension, and lamb and replace it with foods that are higher in nonheme iron such as chicken, fish, fruits, vegetables, and iron-fortified cereals and grains  Avoid: o Alcohol o Foods fortified with iron o Raw seafood o Vitamin C or ascorbic acid supplements o Vitamin preparations that supply iron  Strictly limit intake of foods containing a high quantity of iron, such as: o Dried meats and beans o Iron-enriched grain products o Red meats  Avoid drinking citrus juices with meals

The following foods or substances may impair iron absorption:  Antacids, proton pump inhibitors, or other medications that reduce stomach acid  Calcium supplements or calcium-rich foods  Tannin-containing beverages consumed with a meal, especially red wine, Swedish cocoa, tea, and coffee  Eggs  Oxalates, commonly found in spinach, kale, beets, nuts, chocolate, tea, wheat bran, rhubarb, and strawberries

References and recommended reading

Achieving iron balance with diet. Iron Disorders Institute website. http://www.irondisorders.org/diet/. Accessed November 17, 2016.

Diet recommendations for hemochromatosis. Iron Disorders Institute website. http://www.irondisorders.org/Websites/idi/files/Content/854256/DietRecommendations.pdf. Accessed November 21, 2016.

Learning about hereditary hemochromatosis. National Human Genome Research Institute, National Institutes of Health website. https://www.genome.gov/10001214/. Updated October 23, 2012. Accessed November 17, 2016.

Contributed by Elaine M. Hinzey, RD, LDN Updated by Nutrition411 staff Review date:11/17/16 Keywords: blood disorders, genetic mutation, nutrigenomics, iron, heme iron