Hereditary hemochromatosis is the most common single-gene disorder in the US white population. Approximately one of 300 Caucasians is homozygous for the hemochromatosis gene mutation. At least one in 10 people is a carrier. (Beutler E, et al. Ann Intern Med 2000;133:329-337)
It appears that only a low proportion of individuals with a particularly high-risk gene mutation actually manifest the condition.
Hemochromatosis is characterized by the excessive intestinal absorption of iron; the manifestations of the disease are secondary to abnormally high concentrations of iron in organs and tissues.
Individuals with hemochromatosis absorb only a few excess milligrams of iron daily. Thus, it typically takes years for tissue iron levels to become toxic; undiagnosed individuals usually begin to exhibit symptoms in their fourth or fifth decade. The disease may become evident earlier in some persons, or not at all, even in some who are homozygous for the condition.
Age, gender (women manifest the disease less frequently, probably due to menstrual blood loss), dietary iron intake, alcohol use, the presence of hepatitis C, and other unknown factors all influence the onset and severity of hemochromatosis.
In years past, hemochromatosis was diagnosed when a patient presented with the classic combination of diabetes (secondary to pancreatic damage), cirrhosis (due to liver involvement), and characteristic changes in skin color. Since physicians have become more attuned to the prevalence of hemochromatosis, patients are now being diagnosed at earlier stages of the disease.
What are the Signs of Hemochromatosis?
Iron overload affects multiple tissues and organs. Some of its manifestations are reversible, while others are not:
Reversible manifestations
- Heart: cardiomyopathy (heart muscle injury leading to impaired cardiac output and failure); conduction disturbances (arrhythmias)
- Liver: abdominal pain; enlarged liver; elevated liver enzymes
- Skin: bronzing (melanin deposition due to hormones from pituitary damage); gray pigmentation (iron deposition)
- Infection: Vibrio vulnificus; Listeria monocytogenes; Pasteurella pseutotuberculosis (these organisms grow better in higher iron concentrations)
Irreversible manifestations
- Liver: cirrhosis, hepatocellular carcinoma (cancer)
- Pituitary gland: abnormalities in hormone production, leading to hypogonadism or hypothyroidism
- Pancreas: diabetes mellitus
- Joints: arthritis in hands; “pseudogout”
(Adapted from Brandhagen D, et al. Recognition and management of hereditary hemochromatosis. Am Fam Physician 2002;65:853-60)
Should People be Screened for Hemochromatosis?
The U.S. Preventive Services Task Force has recommended against routine screening for hemochromatosis, citing the likelihood of identifying many individuals who possess the high-risk gene but who may never develop clinical signs of disease. Because hemochromatosis represents a low burden to society, the USPSTF concludes that the potential harms of screening outweigh the potential benefits. (Screening for Hemochromatosis, Topic Page. August 2006. U.S. Preventive Services Task Force. Agency for Healthcare Research and Quality, Rockville, MD)
However, given what is currently known about hemochromatosis, those with the following conditions should consider screening:
- Chronic liver disease
- Signs or symptoms associated with hereditary hemochromatosis
- A family history of iron overload
How is Hemochromatosis Treated?
Individuals who have been diagnosed with hereditary hemochromatosis and who demonstrate iron overload (determined by serum transferrin and ferritin saturations) undergo phlebotomy on a weekly basis until sufficient iron has been removed to ensure the prevention of organ damage. Then, blood is “donated” four to eight times yearly to maintain lower iron levels.
Those affected by hemochromatosis should avoid taking iron supplements, including iron-fortified vitamins. They should avoid consuming or handling raw seafood (a source of Vibrio vulnificus). No “low-iron” diet is recommended, but red meat should be consumed infrequently. Alcohol should be avoided, as iron and alcohol are synergistic hepatotoxins.
Concurrent illnesses (e.g. diabetes or hypogonadism) are treated accordingly.
Stephen Allen Christensen - Dr. Steve Christensen's writing has appeared in magazines, professional journals, poetry anthologies, and children's books since 1976.
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