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Hemochromatosis diagnosis?



I am a 41 year old male of Asian and Caucasian descent. I have a family history of hemochromatosis. My maternal uncle died from this disease and my mother has been diagnosed with it and has regular phlebotomies. I have been to many doctors and they do not seem to think that I have this disease. My symptoms include: fatigue, sore joints, inability to concentrate, anxiety and extreme weight gain (without an increase in food comsumption). I have started a regular exercise program and still I continue to gain weight. The last few blood tests that I took show high levels of iron and ferritin. The results for my most recent blood test are as follows (showing all tests with a high value): IRON, TOTAL 152 ug/dL FERRITIN 413 ng/mL CHOLESTEROL 210 mg/dL HDL 32 mg/dL LDL 149 mg/dL Chol/HDL ratio 6.6 SGOT (AST) 53 IU/L SGPT (ALT) 96 IU/L CHLORIDE 111 mEq/L


Your ferritin is elevated which suggests that you may have some iron overload problems.  In your situation, the best bet is to go ahead and get your genetic assay done to find out if you are a carrier vs a homozygote and have full blown disease. If those results are positive, you need to see an expert so that he/she can begin to de-iron you.  Although I cannot necessarily explain all of your symptoms based on your iron studies, this would be the next logical step in terms of a hemochromatosis diagnosis.

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Response by:

Mark   Wurster, MD Mark Wurster, MD
Former Clinical Assistant Professor of Internal Medicine
College of Medicine
The Ohio State University