Is it possible to have the hemachromatosis disorder if you possess only one gene mutation (vs 2)?

Published: April 17, 2013
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Hi Dr T--I am 44 years old and think I have chronic fatigue syndrome. I have severe fatigue (that has lasted for several years and increases / decreases at times), weight gain over the past 3 years (x 35 pounds), hair loss, sleep problems, trouble concentrating/ memory issues, muscle and joint pain, pinpoint petichiae on my arms, etc. I have been to many doctors over the years and they always tell me most of my labs are within range (with occasional slightly high or low labs--example: vitamin D, B12, low IgA (31), large/ immature red blood cells, high normal TSH with low normal T3 and T4). I had a test done for hemachromatosis a few years ago. My PCP told me that I only had one genetic mutation for this disorder and that meant I would not have symptoms. I have read recently some information that contradicts this. Can you please tell me if is possible to have the hemachromatosis disoder if you possess only one gene mutation (vs 2)? Thanks so much for your help!

Answer

The more important question is whether the elevated iron is contributing to symptoms, which it can whether or not it is from the hemachromatosis. Both too high or too low a ferritin iron level can aggravate CFS symptoms. In addition, it certainly sounds like your thyroid needs adjusting. As long as people have a family physician who has done an examination, I'm happy to work with people doing phone consultations to treat their CFS and fibromyalgia. For more information on an appointment or consultation, contact Denise in my office (410-573-5389).

L&B,
Dr. T

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