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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

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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Can you show me more than 5 syndromes that are cause by DNA mutation such as down syndrome, etc?

Can you show me more than 5 syndromes that are cause by DNA mutation such as down syndrome, etc?

See link: Here is a good starting point for you:

http://www. Ncbi. Nlm. Nih. Gov/books/nbk1116/. ...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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How do dna, mutation, genotype, phenotype, and natural selection interconnect to cause evolution?

How do dna, mutation, genotype, phenotype, and natural selection interconnect to cause evolution?

Modern synthesis: It's as well-established as anything in science, but would take more than 400 characters to explain. You owe it to yourself, as an educated person who must participate in community decision making, to understand it. There are a huge number of good books on the subject. Best wishes. ...Read more

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With bipolar ii, adhd, & c ptsd, what additional tests are beneficial? Ie: hormone, neurotransmitter, DNA mutation (mthfr, a1at. ..) methylation etc.

Yes: I would definitely check mthfr and comt. Both these are involved in methylation. One is involved in neurotransmitter synthesis, and the other in breakdown. Therefore polymorphisms can impact mood, etc, and if so, vitamins and supplements can help the methylation cycle. I check mthfr in most of my patients. ...Read more

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I tested positive for hemachromotosis genetic mutation. My iron levels were high but ferritin was only 50. I'm 19. Should I avoid iron in food?

I tested positive for hemachromotosis genetic mutation. My iron levels were high but ferritin was only 50. I'm 19. Should I avoid iron in food?

No way to avoid iron: Need further details but you should know that Hemochromatosis mutation analysis only diagnostic if a sibling has it. The phlebotomy treatment aims to lower your ferritin to 50 ng/ml or less. The best screen is % saturation of TIBC (total iron-binding capacity), calculated from your TIBC and your serum iron. If 45% or higher, then a ferritin >300 ng/mL in men and >200 ng/ml in women is diagnostic ...Read more

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What mutation causes haemochromatosis?

More than one: There are at least 4 different type of genes involved in hemochromatosis mutations. See this site for more info.

http://ghr. Nlm. Nih. Gov/condition/hereditary-hemochromatosis ...Read more

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Low folic acid &high iron sat per me. Have 1 mutation for hemachromatosis. Petichiae on arms. Any suggestions 're what to ask doctor about?

Low folic acid &high iron sat per me. Have 1 mutation for hemachromatosis. Petichiae on arms. Any suggestions 're what to ask doctor about?

Hemochromatosis: Most people with only one mutation do not get liver disease (although the blood tests for iron may be abnormal). Bloodletting is generally not needed. You should ask your doctor about any other causes of liver disease (and should be checked for these). You should ask about how to test your brothers and sisters for the mutation, how to test your children for the mutation. ...Read more

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Why do people develop hemochromatosis?

Why do people develop hemochromatosis?

It's in the genes: In hereditary (= inherited from parents) hemochromatosis, too much iron is absorbed by the gut & deposits in tissues. Liver, heart, other damage can result. It is autosomal recessive: both parents must carry the gene & not all offspring will be affected. Secondary (= due to other causes) hemochromatosis can occur with certain types of hemolytic anemia (red blood cells bursting, releasing iron). ...Read more

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What do you suggest if my friend has a hemochromatosis?

What do you suggest if my friend has a hemochromatosis?

Blood letting: Hemochromatosis can be easily managed by periodic removal of blood to drain the body of excess iron. This is about the only disease where the old practice of blood letting actually works. ...Read more

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Which is the impact of hemochromatosis on the individual, family and society?

Which is the impact of hemochromatosis on the individual, family and society?

Homework question: An individual with hemochromatosis dies in middle age unless diagnosed and treated. Treatment is extremely easy compared with the other common killers and leads to a healthy life. Sufferers are often accused of being alcoholics in denial if their physicians are unaware of hemochromatosis. I hope you can flesh this out for class. Noncompliance and ignorance kill. ...Read more

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What is iron overload, hemochromatosis?

Too much bodily iron: As a result of the inability to increase iron loss, iron overload is an inevitable response to increased iron entry into the body. This can occur by one of three mechanisms - nutritional intake, increased absorption, parenteral sources (i.e. Transfusions). Hemochromatosis is abnormally high absorption of iron as result of a genetic defect. Extra iron can be toxic. ...Read more

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I have hemochromatosis - can I donate blood?

I have hemochromatosis - can I donate blood?

No: Unfortunately, the red cross does not allow this blood to be donated even though there is nothing wrong with the blood. However, certain bacteria thrive on iron and that may be the red cross's rational. ...Read more

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How exactly do you test for hemochromatosis?

How exactly do you test for hemochromatosis?

Varous blood work: Helpful., such as serum transferrin, transferin saturation, liver enzyme testing, ferritin level. Other options include, liver biopsy and imaging. ...Read more

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What iron levels are considered "suspicious" for iron overload/hemochromatosis?

What iron levels are considered "suspicious" for iron overload/hemochromatosis?

Transferrin sat: Your best screen is transferrin saturation. Many of us think that the current recommendation of 45% or more for women, 50% of more for men miss too many people. If you actually have evidence of liver troubles (elevated SGOT / SGPT, for example), think about getting a serum ferritin. With a family history, get the gene testing to know early. ...Read more

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Are there alternative therapies for hemochromatosis?

Are there alternative therapies for hemochromatosis?

Phlebotomy: Unfortunately, the only effective treatment is removing iron by removing units of blood on regular basis. ...Read more

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Please doctor, I want to know what are the symptoms of hemochromatosis?

Many: Usually it's picked up as elevated liver enzymes / other labs, but once the hemochromatosis patient is treated by removal of blood / iron, they usually say, "wow! I no longer have the blahs." impotence, arthritis at the thumb base, the gray skin, lots more, all self-heal when it's treated. ...Read more

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Could hemochromatosis cause B12 deficiency?

Could hemochromatosis cause B12 deficiency?

Possibly indirectly: The principle treatment for iron overload due to hereditary hemochromatosis is phlebotomy--removing blood/red blood cells. Other important nutrients such as B12 and folic acid are also removed. Many hematologists recommend supplementing vitamins B12, B6 & folic acid to help support the blood when a patient is receiving regular phlebotomy. A daily multivitamin/mineral is a good place to start. ...Read more

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Is iron overload/hereditary hemochromatosis "curable"?

Is iron overload/hereditary hemochromatosis "curable"?

Yes: Yes as long as the iron is removed before irreversible damage like cirrhosis or diabetes has occurred. Phlebotomy is the best way to remove the iron. ...Read more

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Can someone with genetic hemochromatosis donate blood?

Yes: If you're not symptomatic, there's no reason even to tell them, and in fact it's a great way to keep your body iron burden down. In fact, it's how I manage my one-dose hemochromatosis while helping others. ...Read more

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Is there any blood test that you could take to test for hemochromatosis?

Is there any blood test that you could take to test for hemochromatosis?

Yes: Serum iron - is best conducted after fasting for at least 3 hours. Stop iron or vitamin c at least 3 days before taking the test. Total iron binding capacity - tells how well ur body can bind 2 iron. Serum iron divided by TIBC x 100% gives you important information about the transferrin-iron saturation percentage (ts%). Ts% is usually 25-35%; serum ferritin measures the amount of iron stored in u. ...Read more

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Is it possible that you could be prescribed phentermine for hemochromatosis?

Is it possible that you could be prescribed phentermine for hemochromatosis?

No: Phentermine is used as an appetite suppressant. It also has a strong "anti cholinergic" profile. This may lead to a faster heart rate, higher blood pressure, dry mouth, blurred vision, and urine retention. None of these are helpful in the treatment of hemochromatosis. ...Read more

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
320 Doctors shared insights

Hemochromatosis (Definition)

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