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Doctor insights on: Hemochromatosis Dna Mutation

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If I have the single gene mutation (heterozygote) and am a "silent carrier" for hemochromatosis, will I become iron overloaded?

If I have the single gene mutation (heterozygote) and am a "silent carrier" for hemochromatosis, will I become iron overloaded?

No: Hereditary hemochromatosis develops when you inherit two mutations, one on each of your hfe genes. You have just one. About 1/10 folks with northern european ancestry is a carrier. Carriers don't get iron overload. In fact, most folks with two hfe mutations do not get sick at all, even though for many we can see that they are accumulating a lot of iron. A mystery? Rather. But we're working on it. ...Read more

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Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more


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If I have the double gene mutation (homozygous) for hemochromatosis but am not clinically iron overloaded (have high iron levels on lab results) at this time, can I develop iron overload later, such as in 2, 5, or 10 or more years later?

If I have the double gene mutation (homozygous) for hemochromatosis but am not clinically iron overloaded (have high iron levels on lab results) at this time, can I develop iron overload later, such as in 2, 5, or 10 or more years later?

Hemachromatosis: The single gene carrier will likely not develop any symptoms or problems from increased iron absorption. You will still need to have regular blood work to check for increased iron, and not use any supplements with iron. If you have two genes, your chance is good that you will have high levels of iron, and possibly get damage from the extra iron. Timing is unknown, too many variables. ...Read more

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What is a hereditary hemochromatosis DNA mutation?

What is a hereditary hemochromatosis DNA mutation?

Gene Mutation: This is a mutation in one of the genes that help to process iron absorption. The mutation, if present in 2 copies, can cause too much iron to be absorbed. The excess iron then deposits in other organs and can cause disease - cirrhosis, diabetes, impotence. Having only one mutation may not lead to disease. You should discuss this with your doctor to see if you are at risk of developing disease. ...Read more

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If I have the single gene mutation (heterozygote) and am a "silent carrier" for hemochromatosis, will I become iron overloaded?

No: Hereditary hemochromatosis develops when you inherit two mutations, one on each of your hfe genes. You have just one. About 1/10 folks with northern european ancestry is a carrier. Carriers don't get iron overload. In fact, most folks with two hfe mutations do not get sick at all, even though for many we can see that they are accumulating a lot of iron. A mystery? Rather. But we're working on it. ...Read more

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If I have the double gene mutation (homozygous) for hemochromatosis but am not clinically iron overloaded (have high iron levels on lab results) at this time, can I develop iron overload later, such as in 2, 5, or 10 or more years later?

Hemachromatosis: The single gene carrier will likely not develop any symptoms or problems from increased iron absorption. You will still need to have regular blood work to check for increased iron, and not use any supplements with iron. If you have two genes, your chance is good that you will have high levels of iron, and possibly get damage from the extra iron. Timing is unknown, too many variables. ...Read more

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Hemochromatosis color blindness DNA testing influence, can you tell me?

Hemochromatosis color blindness DNA testing influence, can you tell me?

What are you asking?: Can you clarify? Genetic testing for DNA isn't subject to much in the way of outside influences. Genetic work on colorblindness is available but we're not sure what to do with the data. The former is life-and-death. The latter is perhaps a target for gene therapy that will give fullcolor vision to those who haven't enjoyed it. ...Read more

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How can I know if I have iron overload/hemochromatosis? What tests should be performed? I hear that there is a DNA genetic test kit for hemochromatosis, is that true?

How can I know if I have iron overload/hemochromatosis? What tests should be performed? I hear that there is a DNA genetic test kit for hemochromatosis, is that true?

Blood tests: Iron and TIBC (total iron binding capacity) can be used to detect iron overload (iron/tibc >45 increases suspicion). Hemochromatosis, one cause for iron overload, can be detected by a gene study. As a general rule, patients with hemochromatosis are referred to gastroenterologist for a liver biopsy, as iron overload can do significant damage to the liver. ...Read more

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What is the definition or description of: thrombophilia DNA mutation analysis?

What is the definition or description of: thrombophilia DNA mutation analysis?

Test for clotting: Certain inherited blood clotting disorders are due to genetic mutations which can be identified by a blood test. Thrombophilia is the medical term for an abnormal tendency for blood clot (thrombosis). ...Read more

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Dna (Definition)

Dna are the coding molecules found in all living things on earth which contain the instructions on how to build living things. Its is comprised the nucleotide molecules which are ...Read more


Dr. (Liz)Phuong Tran
316 doctors shared insights

Hemochromatosis (Definition)

Hemochromatosis is a medical condition caused by iron accumulation in the body. It can be the result of underlying hereditary disease or be due ...Read more