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Dr. Andrew Rynne

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Diagnosed with heterozygous mutation for C282Y/H63D. Do I need any treatment?

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Dr. Om Lakhani

Endocrinologist

Practicing since :2004

Answered : 319 Questions

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Posted on Mon, 11 Feb 2013 in Genetics
Question: I have a diagonsis of Heterozygous Mutation detected C282Y/H63D. present. Does this cause symptoms requiring any treatment. I am often tired but isnt everybody. I am wondering if i would benefit at all my venisection on a regular basis or is this not necessary with this type of blood result.
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Answered by Dr. Om Lakhani 2 hours later
Hi

The genetic mutation you have is a mutation of Hereditary hemochromatosis. This is associated with increase iron deposition in various tissues in the body especially in the liver. With this iron deposition in the liver there is a risk of development of Cirrhosis of liver over a long term. I would be interested in knowing whether the following blood tests are done for you and if they are not I would advice you to go for the same:

1. Liver function test
2. Serum ferratin level
3. Transferrin saturation.

These tests will tell us about the status of your iron overload for now. If you ferratin levels are high there is indication for repeated phlebotomy on regular basis. Also I would advice you get your children screened for these mutations.

Do let me know that blood reports and I will be able to guide you better.

Hope this was helpful

With warm Regards
Dr. Om Lakhani, MD
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
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