10

Hemochromatosis is a genetic disease that results in the body absorbing too much iron, leading to excessive iron in the body which can lead to organ damage.

Symptoms of hemochromatosis tend to occur after age 40, however, early iron overload may have no symptoms even though organ damage is occurring.

My question relates to how iron levels change in a patient with hemochromatosis over time. Specifically, if iron studies are done in a young patient under age 25 and return a normal result, can we conclude the young person doesn't have hemochromatosis, or is it possible that they still have the disease and if we test them again in 10 years their iron levels will have increased?

If it is possible for a patient with hemochromatosis to have normal iron levels at a young age, is it possible for organ damage resulting from the disease to occur before iron levels are outside normal range or only after this?

Improve this question
1
  • 1
    @DaveL, The question title isn't about maintaining normal iron levels. It is about the natural time course of iron studies results in hemochromatosis patients as they age. The question on liver damage only applies if indeed it is true that hemochromatsosis in young individuals doesn't present itself on an iron studies test, and thus it is ok to leave it in the question.
    – Kenshin
    May 1, 2015 at 7:46

1 Answer 1

Reset to default
2

If the person is a HFE homozygote, or a compound heterozygote, then they need to be monitored yearly for signs of iron overload. Iron overload occurs more quickly if there is concurrent alcohol use and iron consumption eg. using iron cooking pots.

In the asymptomatic patient with genetic hemochromatosis, then phlebotomy should commence when the ferritin exceeds 500 mcg/L and/or fasting transferrin saturation exceeds 50% ( though this value may vary depending where you are located ). The reason that we monitor iron levels is that it is now apparent not all patients who test homozygous for a HFE mutation go on to develop iron overload.

The authors of several large population-based studies have performed hemochromatosis genetic testing on participants many years into the study and used stored blood samples to measure SF over time in participants found to have C282Y homozygosity.10⇓⇓⇓⇓–15 These studies demonstrate that not all C282Y homozygotes, including those with an increased SF level, are destined to have progressive iron overload.16,17

http://www.bloodjournal.org/content/116/3/317

Improve this answer

Your Answer

By clicking “Post Your Answer”, you agree to our terms of service and acknowledge that you have read and understand our privacy policy and code of conduct.

Not the answer you're looking for? Browse other questions tagged or ask your own question.