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Hemochromatosis (Iron Overload) (cont.)

Hemochromatosis Follow-up

Patients with hemochromatosis need routine follow-up with their treating physicians. Blood draws to monitor iron, ferritin, and transferrin saturation are typically done every few months in those undergoing phlebotomy. Hemochromatosis-related diseases require regular follow-up depending on their severity, as recommended by the treating doctor.

Hemochromatosis Prevention

Once the diagnosis of hemochromatosis is made in an individual, screening of the first-degree relatives is of utmost importance. This is the most significant step in preventing the disease manifestations in family members of the affected person, and it is considered the standard of care.

Screening of the first-degree relatives of the patient with hemochromatosis may be done by measuring serum ferritin and transferrin saturation. Genetic testing for the HFE gene mutation has also been recommended in this population for both screening and confirmation of the diagnosis. The ages between 20-30 are generally recommended for screening of the first degree relatives.

Routine screening for hemochromatosis in the general population has undergone considerable debate. Despite its relatively significant prevalence, a population-based genetic screening (testing the entire population) for hereditary hemochromatosis is not advocated based on recent studies.

Recent studies promote screening tests for at-risk individuals who may have clinical suggestion of iron overload, such as elevated liver enzymes or early arthritis, in people of Northern European ancestry. This approach is not an established recommendation as of yet.

Outlook for Hemochromatosis

The outlook for hereditary hemochromatosis is favorable if it is diagnosed early and treated promptly. Life expectancy, in general, is a significantly improved survival rate with removal of excess iron and its maintenance in the normal range.

The main causes of death in untreated patients with hemochromatosis are heart failure, cirrhosis of the liver, and liver cancer.

Medically reviewed by Avrom Simon, MD; Board Certified Preventative Medicine with Subspecialty in Occupational Medicine

REFERENCES:

Edwards, CQ, Kushner, JP. Screening for hemochromatosis. N Engl J Med 1993: 328:1616.
Pippard, MJ. Detection of iron overload. Lancet 1997; 349:73.
Milward, EA, Baines, SK, Knuiman, MW, et al. Noncitrus Fruits as Novel Dietary Environmental Modifiers of Iron Stores in People With or Without HFE Gene Mutations. Mayo Clin Proc 2008; 83:543.
Fletcher, LM, Dixon, JL, Purdie, DM, Powell, LW. Excess Alcohol Greatly Increases the Prevalence of Cirrhosis in Hereditary Hemochromatosis. Gastroenterology 2002; 122:281.
Edwards, CQ, Griffen, LM, Goldgar, D, et al. Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. N Engl J Med 1988; 318:1355.
Phatak, P, Bonkovsky, HL, Kowdley, K. Hereditary Hemochromatosis: Time for targeted screening. Ann Intern Med. 2008;149:270-272.
Harrison's Principles on Internal Medicine, 1998


Medically Reviewed by a Doctor on 4/5/2016

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