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Hemochromatosis diagnosis?


If you or anyone you know has hemochromatosis, how was it diagnosed? Through blood tests or by liver biopsy? I am writing from outside of the U.S. and am wondering why a biospy would be used as a first course of diagnosis instead of genetic testing and thorough blood work? I would appreciate hearing how this is usually done, particularly in the US.
Thanks in advance for your replies.

Dawson is right.
Let me add my 2 cents:

I had elevated liver enzymes in my blood work so the doctor did a genetic bloodwork and he found the C282Y / S56C genes. I am only a carrier for now. My liver was working hard because of my gallbladder that did not work properly. I had it taken out.

Did you know that 85% of Irish descent people have it, compared to 1 out of 200 or 300 in other nations? See
http://www.haemochromatosis-ir.com/

Blood tests you will need to do for an official diagnosis of Hereditary Hemochromatosis are:

DNA test. If genes found, you will need to find out how much iron is in your blood with the following:

Serum Ferritin,
Serum Iron
Total Iron Binding Capacity (TIBC) so that your Transferrin Saturation % can be calculated, and
MCV (mean Corpuscular Volume = volume of red cells) to monitor treatment.

If you need phlebotomies (giving blood), make sure Hem/Ht is done PRIOR to each phleb!

A liver biopsy might be needed to find out if you have cirrhosis and how much iron is stored in your liver. DEMAND sedation (at least a little bit) before. I did not have any and I passed out from the pain and the biopsy was not conclusive because of lack of collaboration from myself; I could not stay still. The doctor prescribed a second one. I was lucky in a sense that I had my second one done under general anaesthesia when they took my gallbladder out. My liver is normal.

Afterwards if your doctor tells you that you need a second liver biopsy to find out the level of iron in your liver, you can tell him that you can have a MRI done to determine that.
See www.ferriscan.com
It is pain free.

I strongly recommend that you visit that Yahoo Group for Hereditary Hemochromatosis for more detailed information. The members share their discoveries and experiences, and some of them seem to know more than their doctors, LOL

http://health.groups.yahoo.com/group/FHH...

Here are some diet suggestions until you find out if you have HH or not:

Drink green tea with meals. It slows down iron intake.
Avoid drinking orange juice or anything with a lot of Vitamin C with meals. It increases iron intake. You can drink it between meals.

Avoid eating liver and sea food. They are loaded with iron. Absolutely avoid commercial breakfast cereals like Corn Flakes. They have 25% iron!!!!!
Health food cereals like organic oatmeal is fine.

Some interesting web sites I found:
http://www.ironoverload.org/facts.html

http://www.americanhs.org/Irish%20in%20t...

http://www.haemochromatosis-ir.com/

http://www.upmc.com/HealthManagement/Man...

http://www.emedicine.com/RADIO/topic323....

be careful u will be ok

My brother-in-law has it, and was diagnosed thru blood testing. Liver biopsy is too dangerous to do for something that isnt really that serious.

In Australia Hemochromatosis is diagnosed by a series of blood tests looking at iron levels and genetic testing. A biopsy may be done if the results a very elevated to examine the extent of liver damage, however this would be done after a ultra sound or ct scan. The treatment is fairly non invasive and will require fortnightly bleeding generally done through a pathology company or the blood service until the levels have reduced. Then you just need to continue with 3 monthly bleeding to mainting a healthy level. Vitamin C is not suggested as it helps absorb iron in food. All the best

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