Haemochromatosis??

Question

We have recently found that this runs in our family. Close and extended. I had the test and I am a carrier. Can anyone tell me what this means. Can I develop it. My both parents have tested negative for it, so it skipped a generation. My 2nd cousins suffer badly from it having to have blood taken. I am not able to take iron supplements. Even during my pregnancy the supplements even in low doses made me ill. Would this be because I am a carrier? And what are the chances of my children getting it. Will they have it or be carriers? Thanks

Answer 1

Haemachromatosis in general is an overload of iron in the body and can be hereditary (as in your case) or aquired (as in those who have frequent blood transfusions).

As a result sufferers need to be bled to remove the excess iron (in red blood cells) as constant exposure to high iron content in the body is toxic to your organs.

In hereditary Hsis, the mutation of the HFE gene impairs the body's ability to reduce iron absorption according to iron content in the body.

You have two HFE genes. One from each parent. The two most common causes of haemochromatosis are the C282Y and H63D mutations on the HFE gene although there are a few rare random mutations.

You can be homozygote for one or the other, or be heterozygote and have one of each mutation. You can be autosomal recessive (need two mutations to show disease) or autosomal dominant (need one mutation to show disease). The mutation has incomplete penetrance meaning there is a variable expression of the disease. So even if a patient has two genes they can have a low chance (1-25%) of developing the clinical disease state.

To be a carrier you have one autosomal recessive gene. To be a sufferer you have one autosomal dominant gene or two autosomal recessive genes.

Carriers in general do not express the disease state and only have a slight probablity of developing it.

As a carrier you can pass it onto your children who may be normal, carriers or become sufferers (so chances are 1 in 3). Severity of disease is dependant on the mutation that is being passed on and how the individual expresses it.

Hope this helped.

Answer 2

There is no reason why you can't have iron supplements during pregnancy if you do not have the disease. Being a carrier just means you have one of the genes and if you have a child with someone who is a carrier you could pass it on. If caught early alot of the side effects of this disease can be slowed or prevented such as diabetes and impotence. Good luck!

Answer 3

Hemochromatosis is a disease of iron overload. A more severe form of it being Cooley's Anemia. Ethnically speaking it sometimes more prevalent in persons of European background. Having to much iron is a bad thing because to much iron can be toxic to your organs over the long term especially the liver. Many times people with advanced uncontrolled disease need to have their spleens removed. Generally, depending on severity, it can be treated simply by dietary restriction of iron containing foods to having to take iron chelators (either orally or subcutaneously/intravenously to having to have blood removed ). Also, It is important to know that being a carrier and having the disease are different things. Hope this helped.

Answer 4

Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. It is the main iron overload disorder.

Not sure what it means to be a carrier sorry..

Answer 5

a friend of a friend has this and has to go for regular blood donor sessions as his is producing far to much iron in his blood. Not all of his family have it, so your children may not get it.

Hope it goes well for them

Answer 6

www.glycoscience.org

www.glyconutrientsreference.com

Read over all the material and get in touch with me.

Answer 7

http://en.wikipedia.org/wiki/Haemochromatosis
here try this link I think it should answer everything you asked in plain simple format

Answer 8

dunno soz
:-(