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Wednesday, December 11, 2013
Is is possible for a person to be originally diagnoised as being a gene carrier for Hemochromatosis, be told tht it`s not possible to become symptomatic, as well as having been treated for severe anemia to suddenly no longer being anemia (no specific/additional treatment, diet or environmental changes occurred) and start showing signs/symptoms of the disease? (there is a family history of the disease). I am trying to find out if it`s a possibility. understanding I am not seeking a diagnosis.
Being a carrier means that you have one copy of a mutation. For recessive conditions, like hemochromatosis, carriers do not have symptoms, but they can pass their gene change on to their children. For recessive conditions, individuals must have two gene changes, or mutations, to be at risk of developing the disease.
If you have a family history of hemochromatosis, your affected family member’s genetic test results should be compared to your genetic test result. It is important to know whether your affected family members have two identifiable gene mutations that are causing their risk for hemochromatosis. If only one mutation was able to be identified in your affected relatives, this means that there is another mutation that was not able to be identified in them. Therefore, you may also have inherited this unidentifiable mutation, and that is why you may be showing signs and symptoms of hemochromatosis.
Amy Curry Sturm, MS, CGC
Clinical Assistant Professor of Human Genetics
College of Medicine
The Ohio State University