Haemochromatosis advice, please

First the proper test prior to the genetic test is an Iron Studies.  It includes Serum Iron, Ferritin Iron, Transferrin Saturation %, and TIBC.  It is not haemoglobin which is your red blood count which tells whether you are anaemic or not.  This is not an indication of HH nor is just an iron test.  You can be anaemic and still have the genes for HH.  Anaemia or low ferritin iron level might just be associated with menstruation, or bleeding from the gut, celiac, or helicobacter pylori, or ?.  At the present I think celiac can only be surely diagnosed by a biopsy.

Ferritin iron indicates how much iron is stored in your organs, and transferrin saturation % is how much is available to be stored.  Serum Iron is how much iron is circulating in your veins.  TIBC lowers when your ferritin iron is high and rises when it is not.  Ferritin iron and TS% is the most important markers. TS >45 usually indicates HH.  However, a genetic test confirms it for sure and lets you know exactly what HH gene/s your have inherited.

You do not inherit half a gene, it is a whole gene either from your mother or your father.  If one or other are carriers there is a good chance of inheriting that one gene.  This is very important to know because it can be passed on to one of your children and they could marry another carrier and end up with a child with the two HH genes.

Two genes are required to have hereditary haemochromotosis, ie. the full blown disorder.  As your brother has two genes, then both your parents are carriers and he was 'lucky' to get that gene from each of your parents.  However, one might have had full haemochromotosis (i.e. 2 genes) too.  Think about the health of your parents and which one might have had these symptoms and health complications.

Even if you have only inherited one gene, ask for a copy of your genetic test so that you have it in writing and can identify which gene it is. I.e., C262Y, or H63D.  Which ones does your brother have?

As to your symptoms sounding similar, you might have a fatty liver which causes high ferritin iron levels similar to HH.  HH can cause fatty liver, and conversely, fatty liver can cause high ferritin iron without having HH.

Fatty liver does not show up in a LFT - only a scan.  However, I have had experience with people in the same position as you who have cut out all sugars, and starches which have cured their fatty liver, and reduced their ferritin iron level.  If you have a pudgy middle, you are quite likely to have fatty liver.  You will soon rediscover your waist.  (I run a support group for people with HH and these problems - I do not have medical quals, only lots of experience.) 

I have two C282Y genes, and eventually after years of discomfort, I find that I cannot tolerate sugars and starches (that includes breads, potatoes - best to google what foods contain starch which is really sugar).  Eat good oils, not bad fats.

Now that I know the symptoms of HH, I believe my father had the two genes, my mother is a carrier and my siblings are carriers of one gene.  I definitely inherited one of my fathers' HH genes, and my mother's carrier gene.  My siblings would have inherited one of my father's genes, and the 'blank' one from our mother.

So out of all this, I would suggest you ask your dr for a copy of your genetic test, and for a Iron Studies test to find out what your ferritin iron level is, always ask for a copy of your blood tests (and scan if you have one), and start eliminating sugars and starches.

As habits of eating bread, pasta, rice and potatoes were long grained from childhood, I started eliminating them from dinner, then from arvo tea (like cakes, biscuits), then from lunch (so hard as used to having a sandwich), morning tea and finally gave up my much loved porridge and now have a protein brekky.

E.g. fried egg on turkey, on avocado and, after finding eating fried egg without toast was so icky, I found the bread with the highest protein and least flour (burgen soy and linseed bread).  Anything full of seeds and nuts and 'sweepings off the floor' is better than high flour content.  Gluten free is still starch.

Try donating blood every 3 months.  It is good for you and the person it is going to.  Ask for an Iron Studies test every 6 months to see how you are going in the ferritin iron department.  If it was high, and is now reducing, you know you are on the right track.

I hope that all helps you understand.  Sometimes genetic tests fail, and if your Iron Studies results indicate otherwise, maybe a retest is warranted.

You definitely need to get hold of the results of the blood test to check what your ferritin is and your transferrin saturation as Sheryl states.

My case was similar to yours.  My symptoms were non specific at the time and a lot of the symptoms I had were put down to the menopause.  I was told that I had inherited one copy of the gene for classic HH and would not go on to develop full blown haemochromatosis.  My ferritin was still going up though and I was referred to another consultant who specialises in the condition. 

He took loads of blood and tested for everything and sent a sample off to be genetically tested.  I am C282Y negative and H63D heterozygote (results from the normal blood test) and have a heterozygous mutation in the FPN gene (from the genetic testing).  This confirmed that I have Ferroportin disease.  With this form of haemochromatosis you only need to inherit one gene from one parent to develop the disorder and not one gene from both parents.

Let us know how you get on.

Marie