hemachromatosis

[Guest guest]

I am now revisiting hemachromatosis as a possible problem

with my liver. Hemachromatosis { I shall call it Hema for

short } is a problem where the body stores too much iron. It

ends up particularly in the liver and in the heart.. I am

interesting in finding out if anyone else has been tested for

this gene .

Here is some info on it..

I notice on this website alot of the symptomolgy we discuss

here is present in Hema.... Poor adrenals. bad digestion, pre

diabetes being some of them..

http://digestive.niddk.nih.gov/ddiseases/pubs/hemochromatosis/index.ht

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I was treated for awhile but got scared off that I was not

doing the right thing last summer when I had a crisis right

after a phlebotomy { blood letting is the procedure to lower

iron levels in the body.} I will explain later my experience ..

I will share my test results of the genetic test on the Hfe

gene. that is known to show positive diagnoses for Hema..This

genetic test is the firm way of a diagnoses. My doctor was

able to order the test for me.. plus lucky me our city was

doing research on our population to do a study looking for

information on the disease and I signed up

My results ,, word for word.. for those brains out there.. LOL

" This individual was found to be heterozygous for the

His63Asp mutation to the Hfe gene. In asymptomatic individuals

the finding of this genotype is not expected to confer an increase

risk of developing hemochramatosis, However , in individuals

who are symptomatic of an iron overload disorder this genotiype has

been reported in the literature to be associated with a

modertae clinicial presentation or with iron storage disorders

produced by other genetic or environmetnal causes, Therefore the

cause of iron overload in symptomatic individuals should continue

to be evaluated.

The findings reported here are based upon the current knowledge

of the hemochromatosis gene human chromosome 6. 83% of

indiiviudals with hemochromatosis have been shown to be

homoxygous or the Hfe Cys282Tyr{C282Y} mutation/ 4% of affected

individuals have been found to carry a second mutation , His63Asp

{63D. THe clinical signiificance of this second mutation is not

known at this time. "

So in short I had what they refer to as the second

mutation.Which means if I show symptoms of the illness then

it more thought should be given to me having Hema. I had

the test read by a doctor in the states and he thought

because of my symptomogy I should get treatment for

ironoverload.. I gave blood for quite some time. I would

notice a big increase in energy and a sense of relief after

blood letting. So I though I must fit into the later

category ..Then I had the one bad time last summer so

backed off .. but now wonder about trying it again... I

know my liver is bad.... and I did feel better..

Anyways I thought for those who are having similar symptoms to

me.. bad digestion.. painful liver, fatigue.. I thought you

may be interested

Nanci