Confused re Type 1 Haemochromotosis gene - homozygosity at position 282/YY

You seem to have a robust enough amount of iron to receive regular phlebotomies. You need to keep your ferritin iron down to around 50.   You may not need any more help aside from a Hematologist. Perhaps you can eventually begin donating blood and help others with the blood rather than throw it away.  You should have your heart evaluated once a year for iron deposits as iron can effect the heart and cause cardiomyopathy.  Phlebotomies can't remove iron from your joints so you could still have joint damge over time.   Every organ can be affected by excess iron but it appears you have caught it early and your liver and pancreas may be spared scarring. 

Your transferrin saturation % is also important to know.  If yours is >75% it might explain your severe symptoms despite your ferritin level not being extremely high.

In the lead up to my diagnosis (9 years), I apart from bone and body pain, I too had left side chest pain which dissipated with venesections, extreme fatigue, foggy brain, etc.  I was diagnosed when my hip broke up from osteo necrosis.  The other eventually went too - it was explained to me that my blood was so thick with iron, it was blocking the fine capilliaries that feed the bone.  So the bone died.

I also eventually realised that I was not digesting starches too well - making my abdomen swell.  There was probably some gluten intolerance, but it is sugars and starches that are the problem.  Eliminating starches, also eliminates gluten foods.

Among your regular tests should be Liver Function Tests, Thyroid, and every now and then, glucose tests.  We often have a problem absorbing vit D, and B12 - one or the other.  So a test for those is worthwhile.

Do not expect the medical profession to be knowledgeable about haemochromatosis.  Educate yourself, talk to and join your country's HH association, and support them to educate the medical profession and make them and others aware of the disorder.  You will soon be teaching the nurses about haemochromatosis.

Blood tests will not identify fatty liver, so a scan is necessary, or the MRI.  Ask for a copy of the report.  In fact, ask for copies of all your test results for your own records.

At 56 you no doubt are experiencing menopause.  When you stop menstruating, your iron levels will climb.  Left undiagnosed, we end up suffering what feels like a double whammy of menopause as nothing seems to work.  Keep up those venesections, and find your ferritin level where you feel best and stick to it - regardless of what your dr says - your dr is not experiencing it.

I keep a spread sheet of my iron studies result and I can see a pattern emerging of what happens when I have a venesection.  I now try to have an iron studies test just before my now 3 monthly venesection.  Moving onto 4 monthly always causes disaster for me, so I am not moving from 3 monthly, even though my levels have been low for a long time now.  I always have TS% >75%, but I notice that lowers when I have a venesection even though it looks like I don't need it.

There is a lot of medical research out there, but drs rarely read it.  If you find something that applies to something that concerns you, print it off and give to your dr or haemotologist.  Haemotologists are not HH specialists either.  They know how to read blood tests.  And you don't need a gastroenterologist who only know about how it affects the liver, unless you have liver problems.

Keep in mind that everyone is different and there is no set formula for treatment, even though drs like to think so.  You must be your own advocate.