I Have Been Identified As Having Hemochromatosis Carrier State. Because
Iron overload can affect many different organs
Hello, I'm Dr. Branch, thanks for using 'Ask a Doctor'.
You may need to explain about your status as a carrier of the gene for hemochromatosis, since carriers do not usually get iron overload (you may have another variant that causes iron overload, or the iron overload may be from a different cause unrelated to genetic causes). Regardless, if you do have evidence of iron overload (based on iron studies), the initial treatment is usually phlebotomy, or taking blood out of your body. If you were to have iron overload and did not treat it, the excess iron would deposit into multiple organs, especially the liver, but also the heart, pancreas, pituitary gland, and others, leading to liver cirrhosis, heart failure, diabetes, and other diseases. How quickly this would happen would depend in part on the level of iron overload, and other factors that might affect these organs.
I hope that helps, please let me know if you have any other questions about that, and I would be glad to discuss it with you further.
What are the units for the ferritin?
Can you just confirm what the units for your ferritin test are? Is it 168.70 ng/mL, or mcg/L, or something else? If you can send a picture of your results, that may be more clear as well.
I would only treat with a ferritin > 500
Typically we would only treat iron overload if the ferritin was at least over 500, and sometimes we wait until it is above 1000. The exception to this would be if there were signs of damage from iron overload, such as liver or heart problems, or if an MRI or biopsy showed increased tissue iron. I have never heard of trying to bring the ferritin to such as low level. What country are you in? Are you under the care of an endocrinologist or other specialist?
Perhaps diabetes is from iron overload?
I would assume they have a good reason to do this, but I'm not sure what it is. Perhaps your doctor thinks the diabetes is from iron overload? It seems like getting your ferritin down to 20-50 might be difficult, but I have not tried to do this before. I guess I would just ask your doctor why they want the ferritin to be so low, do they think that a ferritin under 500 is going to cause damage? Hopefully that would clarify the reasoning behind this.
Please let me know if you have any other questions, I'd be glad to help any way I can.
I can send you an article on hereditary hemochromatosis
If you can send your email, I can send you an article on hereditary hemochromatosis from UpToDate, which is a resource often used by physicians. There is a section that mentions carriers of the hereditary hemochromatosis gene (or heterozygotes), I'm not sure what you mean by having both of the genes for the hemochromatosis carrier state (are they two different genes for hereditary hemochromatosis?), but the basic problem of iron overload would be the same, I would think.
Also, if you can send a report that describes your condition exactly (what genes you have), that might help as well.
It does appear you are homozygous
So, if I am reading the report right, it does appear you have both H63D genes, which would mean you have hereditary hemochromatosis. However, as the report mentions as well, the penetrance is variable, which means you may or may not have any symptoms or have iron overload at all. In which case I would simply have you avoid anything that can harm the liver (alcohol use, using too much Tylenol), and monitor your ferritin. From my understanding, you should not have any issues with iron overload if the ferritin stays below 500.
I'm sending two articles, one on the management of hemochromatosis, and another discussing the genetics of hemochromatosis. Please let me know if you have any other questions, I would be glad to help.
It would be good to discuss with your doctor
Yes, I agree this would be good to discuss with your doctor, like I said, I'm sure they have good reasons for doing what they are doing, but it would be good to understand why. I agree the MRI would be helpful to see if there are any signs of iron overload. And yes, MRI would be safe and does not use radiation as a CT scan does.
You're very welcome, please let me know if there is anything I can help with in the future, I would be glad to help any way I can.
Yes you can
Yes you can, and it would be much appreciated, thank you!
You should be able to request me when opening a new question
I'm not sure how it looks for you, but when you start a new question, you should be able to have the option to request a specific physician, so you can just look for me and select me when you open the question. If you have any trouble I'm sure customer support with Ask A Doctor could help as well.