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I Have Been Identified As Having Hemochromatosis Carrier State. Because

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Posted on Tue, 26 Jul 2022
Question: I have been identified as having Hemochromatosis carrier state. Because of double gene genetics. I was told to have blood taken out of my body . And plan to do it repeatedly. What happens if I do not do this? Can it cause damage to my body because of. high ferrite/ iron
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doctor
Answered by Dr. Aaron Branch (53 minutes later)
Brief Answer:
Iron overload can affect many different organs

Detailed Answer:
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.
Above answer was peer-reviewed by : Dr. Vaishalee Punj
doctor
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Follow up: Dr. Aaron Branch (10 hours later)
My dr. Ran a study to check genes to see if I have. Hemochromatosis carrier state. The result said I had both bones for this condition. So genetic Hemochromatosis. My last ferritin was 168.70. Dr says it should be 20-50 for my condition. Can you comment on this?…
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Follow up: Dr. Aaron Branch (3 hours later)
What does having tio much ferritine do to my body
doctor
Answered by Dr. Aaron Branch (6 hours later)
Brief Answer:
What are the units for the ferritin?

Detailed Answer:
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.
Above answer was peer-reviewed by : Dr. Saisudha Kotla
doctor
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Follow up: Dr. Aaron Branch (17 hours later)
It’s ferritin. 168.70. NG/mL. Lab range 22-415….. but because of genetic hemochromatos carrier state, dr wants my level much lower. To. 20-50.. Are the recommended levels for people who have hemochromatos carrier state,
doctor
Answered by Dr. Aaron Branch (5 hours later)
Brief Answer:
I would only treat with a ferritin > 500

Detailed Answer:
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?
Above answer was peer-reviewed by : Dr. Saisudha Kotla
doctor
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Follow up: Dr. Aaron Branch (3 hours later)
but because of genetic hemochromatos carrier state, dr wants my level low..under care of an endocrinologist in usa. see uploaded picture from report..
doctor
Answered by Dr. Aaron Branch (3 hours later)
Brief Answer:
Perhaps diabetes is from iron overload?

Detailed Answer:
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.
Above answer was peer-reviewed by : Dr. Vaishalee Punj
doctor
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Follow up: Dr. Aaron Branch (19 hours later)
This has been very very helpful. I am still wondering if there would be any reference material for me to review guidelines for people who both of the genes for Hemochromatosis carrier state. Are there special lower limit ranges for me as a Hemochromatosis carrier state. Just wondering if you know if there is any reference material for me?
doctor
Answered by Dr. Aaron Branch (4 hours later)
Brief Answer:
I can send you an article on hereditary hemochromatosis

Detailed Answer:
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.
Above answer was peer-reviewed by : Dr. Kampana
doctor
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Follow up: Dr. Aaron Branch (7 hours later)
Thanks, YYYY@YYYY …. I will send report soon. XXXXXXX
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Follow up: Dr. Aaron Branch (27 minutes later)
I sent report. I really appreciate this help. XXXXXXX
doctor
Answered by Dr. Aaron Branch (9 hours later)
Brief Answer:
It does appear you are homozygous

Detailed Answer:
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.
Above answer was peer-reviewed by : Dr. Kampana
doctor
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Follow up: Dr. Aaron Branch (25 hours later)
Thank you for this info and tremendous help. I will be taking to my dr about this. She is recommending seeing a hematologist and/or donating blood because of ferritin level. Also wants a mri. My understanding an mri is super safe. - unlike a cat scan which subjects me to radiation. Thanks. I will closing and rating when I have access to a computer . Rating on a iPhone can be a problem.
doctor
Answered by Dr. Aaron Branch (1 hour later)
Brief Answer:
It would be good to discuss with your doctor

Detailed Answer:
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.
Above answer was peer-reviewed by : Dr. Saisudha Kotla
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Follow up: Dr. Aaron Branch (12 hours later)
Before closing ,I was wondering if i can send question through HCM. Directly to you. XXXXXXX
doctor
Answered by Dr. Aaron Branch (9 hours later)
Brief Answer:
Yes you can

Detailed Answer:
Yes you can, and it would be much appreciated, thank you!
Above answer was peer-reviewed by : Dr. Saisudha Kotla
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Follow up: Dr. Aaron Branch (1 hour later)
How would I direct my question directly to you?
doctor
Answered by Dr. Aaron Branch (7 hours later)
Brief Answer:
You should be able to request me when opening a new question

Detailed Answer:
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.
Note: For more information on hormonal imbalance symptoms or unmanaged diabetes with other comorbid conditions, get back to us & Consult with an Endocrinologist. Click here to book an appointment.
Above answer was peer-reviewed by : Dr. Raju A.T
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Dr. Aaron Branch

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I Have Been Identified As Having Hemochromatosis Carrier State. Because

Brief Answer: Iron overload can affect many different organs Detailed Answer: 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.