DEAR DR. GOTT: My mother is 81 years old. She has a problem with producing too much iron in her blood. The only treatment that we are aware of is to have blood drawn off when the count gets too high. What causes this? Is it hereditary? What can we do to keep the count low? Please let me know whether there is a relationship to the environment or food. Also, when the count starts to get high, her head starts to itch and she feels totally worn out. Can you help us?
My mother is on warfarin for blood clots in her legs (twice), calcium plus D, Actonel once a month, methotrexate for arthritis, folic acid and PreserVision for degeneration of her eyes.
DEAR READER: Your mother is likely suffering from a condition known as hemochromatosis. It is the most common form of iron-overload disease. There are several forms, including primary/hereditary, secondary, juvenile and neonatal.
Primary or hereditary hemochromatosis is generally caused by a defect of the gene HFE, which regulates the amount of iron absorbed from food. There are two mutations, C282Y and H63D. Those with one copy of the defect C282Y become carriers who don’t develop hemochromatosis but may have higher-than-normal iron levels throughout life. Those with two copies can develop the condition.
Secondary is caused by anemia, alcoholism and other disorders. Juvenile and neonatal hemochromatosis are caused by a mutation of the gene hemojuvelin.
Treatment, as you know, is phlebotomy (blood drawing). If started before the condition progresses, it may prevent symptoms; otherwise, it typically improves but doesn’t eliminate symptoms. Arthritis caused by iron overload will not benefit from treatment. There is no other treatment available.
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