Hereditary Haemochromatosis is just one of the genetic iron overload diseases.The 2 genes are C282Y which is a celtic gene.Then there is H63D believed to be of Mediterranean origin.Unfortunately in World history these 2 groups had a tendency to travel the world leaving their genes behind so these genes turn up in unexpected places at times.The disease due to H63D is mild and many do not have significant iron overload.Someone who has both a H63D and a C282Y gene is more likely to have significant overload but the most severe cases have a double copy of C282Y.But up to 10% of those with a double copy of C282Y do not have significant overload.So there are other factors apart from the gene mutations that must be important.
Many systems are affected but the commonest is the liver with cirrhosis and Hepatic cell carcinoma.Diabetes is a common problem.Degenerative arthritis is common.Testing people from diabetic clinics or joint replacement clinics results in a much higher pickup rate than testing the general population.
Other things include the heart,testes,pituitary and thyroid glands.Early symptoms are usually fatique and lethargy but often skin colour change.I was a good example of this as I would go to the beach,get sunburnt and the next day had a great tan.This used to p*** mrsdrron no end.
The disease was first described in 1871.Blood letting became the treatment in the 1950s.In the 70s a genetic basis was first proposed due to the work of Prof.Powell in Brisbane who found iron overload in 4 related non drinking women.Up to then it was considered to be a variant of alcoholic cirrhosis.His research showed a relationship with HLA A3 which pointed to a genetic cause.The gene was first reported in 1996.I was diagnosed in 1992 because I moved to QLD.I needed a biochemical screen for life insurance.In QLD this included iron levels.Mine was high though passed by the Insurance company without question.But I was aware of Prof. Powell's work and found I had a ferritin of ~ 700 and a transferrin saturation of ~ 90%.That was even though I had given the Red Cross 75 pints of my finest.Very lucky for me.
My sister has the genes and is just developing iron overload.Mrsdrron had a brother who had 2 copies of the H63D gene.She has one.Fortunately for my son who hates the sight of blood he has only 1 copy of C282Y.An uncle of mine had died of cirrhosis.Behind his back the family all described him as a cupboard drinker.I now know better.Both my parents though were adamant they were not responsible for my genes-my reply-I always knew I was adopted.
Because it became known I had the disease there were quite a few referred to me.One was a family member of a journalist.My story appeared in a long article in the Weekend Australian magazine in the mid 90s.This meant I had a lot more patients with HH than most physicians.
An end to the story with a couple of link.There is a very active patient support group in Australia-
Newly Diagnosed? You May Be Eligible To Participate In Mi-Iron Research Study | Haemochromatosis Australia
I have linked to a page with a link to a new trial going on in Australia for HH.
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