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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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What Is Hemochromatosis?

I was recently diagnosed as having one gene of hemochromatosis. What does that mean? I m concerned for my daughters age 29 and 27. Is there anything that can be done to screen my daughters? My mother had this and passed from liver cancer after an 18 month battle.
Mon, 16 Jun 2014
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General & Family Physician 's  Response
Hi,
Welcome to healthcare magic

I have read the query and understand your concern.Hemochromatosis is a disorder in which there is excessive iron absorption in body without sufficient excretion.This iron then keeps on accumulating in various parts of body like liver,heart,joints,testicles causing dysfunction of these parts.

It can be hereditary due to a gene in your case or can also be caused due to iron overload due to repeated blood transfusions.Expression of disease requires the abnormal genes to be inherited from both the parents and presence of single gene like in your case will result in a carrier state.

But,if your husband too has a abnormal gene present then the chance of the symptoms of this disease being seen in your daughters is high.Single gene can be transferred to your daughters from you but it will lead to carrier state in them without any symptoms.

Screening for the disease can be done by carrying out blood tests in your daughters like serum ferritin, TIBC to check the iron absorption and deposits in body and genetic tests for the presence of HFE gene.

Hope this answers the query.

Regards,
Dr.Tushar Tamboli
I find this answer helpful

Note: For detailed guidance on genetic screening consult a genetics specialist
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What Is Hemochromatosis?

Hi, Welcome to healthcare magic I have read the query and understand your concern.Hemochromatosis is a disorder in which there is excessive iron absorption in body without sufficient excretion.This iron then keeps on accumulating in various parts of body like liver,heart,joints,testicles causing dysfunction of these parts. It can be hereditary due to a gene in your case or can also be caused due to iron overload due to repeated blood transfusions.Expression of disease requires the abnormal genes to be inherited from both the parents and presence of single gene like in your case will result in a carrier state. But,if your husband too has a abnormal gene present then the chance of the symptoms of this disease being seen in your daughters is high.Single gene can be transferred to your daughters from you but it will lead to carrier state in them without any symptoms. Screening for the disease can be done by carrying out blood tests in your daughters like serum ferritin, TIBC to check the iron absorption and deposits in body and genetic tests for the presence of HFE gene. Hope this answers the query. Regards, Dr.Tushar Tamboli