compound heterozygous hemochromatosis
Posted , 5 users are following.
Hi all
So after first being refurred by my doctor in May just had my first V and got genetic results back. I have compound heterozygous hemochromatosis can anyone tell me any more about this please and who in my family may be at risk as the nurse didn't seem to be able to tell me much other than it only came from one side of my family.
The first V didn't go well. Kept almost passing out. Took an hour and a half before she was happy enough with my blood pressure to let me go and about half an hour for my arm to stop bleeding. Hope it doesn't happen every time. Another one in two weeks don't get to see the doctor for another 2 months.
Laura.
1 like, 9 replies
mary89522 laura_19229
Posted
angel72 laura_19229
Posted
QUICK-FIT laura_19229
Posted
This is to determin which Parent (Sometimes Both) has the Faulty Gene.
In my case, it was my Dad, But he is only a Carrier, which means his Iron levels remain normal and he has no symptoms.
So in my case any brothers or sisters had to be tested. I had 2 brothers, 1 tested positive and 1 negative. My Dad has an older brother with 2 sons, So i contacted them and 1 was Positive and 1 Negative.
Now i was Diagnosed at 40yrs, and i have 2 sons of my own. but my doctor has told me my sons dont need Tested until 18yrs old. Oh my Wife was also Tested to rule out a Rareity that 2 people meet / get married / and discover both have HH. Its not impossible so tell your Hubbie to get Tested. I think if both Parents are HH then every child born to them will have HH.
Regarding the Saline IV, I never experienced any side effects while having my blood removed, so cant comment but sorry to hear a few experiencing passing out etc. Everyone with this HH has a different story to tell, so your in the right place to get well educated.
So Far i have had over 20 pints removed but struggling with Chronic Fatigue and Depression etc etc. However i am very grateful to have had an early diagnosis before any major organ damage so i hope you all are as fortunate. Good-Luck and God bless us all xxx
mary89522 laura_19229
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QUICK-FIT mary89522
Posted
I immediatley thought it was my mothers side as she has lots of on-going issues as does at least 3 maybe 4 of her sisters. Also my gran was Irish so i thought it was mum`s side. To my total amazement my mum tested Negative and my Dad was Positive, He is the Fittest one from us all, and after a bit of investigating Family Tree`s etc. It turns out their is Irish Desendents on my Dad`s side also.
sheryl37154 mary89522
Posted
It means you got the C282Y from one parent and the H63D from the other. So that means both of your parents were carriers at least.
My son is compound heterozygous C282Y/H63D, I am homozygous C282Y and his father is homozygous H63D, so our son (we only got the chance of one child) could not miss out. If we had more, they would all be C282Y/H63D.
If your parents were only carriers, i.e. heterozygous, then there are more chance of their children being only heterozygous or none at all. If at least one of your parents were homozygous, then all their children would at least be heterozygous, or compound like you.
sheryl37154
Posted
sheryl37154 QUICK-FIT
Posted
Quick-fit, are you saying you are only heterozygous (you said your mother was negative and your father was positive)? Maybe you told us that long ago, but the memory bank is not so good anymore.
The latest I heard from Prof John Crowe, Dublin, at a recent conference, is that fatigue is caused by mitochondrial overload. As there was no chance to ask questions after that particular address I did not find out what we can do about it . So I googled it, and the only thing I came up with, is to take CoQ10 - a good one. We need 150-300mgs. I had tried it on and off (as a treat for myself now and then!!!) but can't say any difference was obvious. Now trying BioCeuticals which are bioactive, more expensive of course, but one gets desperate.
Have you had your B12 and Vit D tested too? Probaby a repeat question - sorry!
laura_19229
Posted
Hi sorry for late response and thanks for your replys. I have been reading up and found this - pasted below. I find it hard to believe compound is a milder form as my symptoms I have previously discussed on the forum and that I am only 36yr old female - I know it's different for everyone. Also as a matter of interest my doctor said to ignore TS% as the test is rubbish and couldn't be trusted!! Mine is @ 80%. Seems the doctors can't even agree on anything so how are we supposed to understand what's going on??
C282Y/H63D Compound Heterozygote
Individuals who are compound hereterozygous for C282Y/H63D are at an increased risk for developing a clinically milder form of hereditary hemochromatosis. This form is found in approximately 3 to 8% of individuals who are clinically affected with hereditary hemochromatosis. Approximately 1% to 2% of individuals with this genotype will develop clinical evidence of iron overload. While individuals with this genotype may have increased iron indices, many do not develop clinical disease without other precipitating factors (hepatitis, alcohol abuse).
C282Y/S65C Compound Heterozygote
Individuals who are compound heterozygous for C282Y and S65C may have a small risk for mild hemochromatosis. This rare variant displays a very low penetrance.
C282Y Heterozygote
Individuals who are heterozygous for C282Y may have mild symptoms of hemochromatosis such as lethargy, joint pain, and weakness but are unlikely to develop the disease.
H63D Heterozygote
Individuals who are heterozygous for H63D are unlikely to have symptoms of iron overload and are not at significantly increased risk of developing the disease.
Note: Individuals who are heterozygous for S65C or compound heterozygous H63D/S65C do not seem to be at a measurably increased risk for hereditary hemochromatosis. Accordingly, the S65C mutation is only reported when it is part of the C282Y/S65C compound heterozygous genotype.