haemochromotosis

Illkillya

i dunno if i spelt that right..

anyway today after 2 years waiting my uncle was diagnosed of haemochromotosis (thats the state of the Southern Health board.... and the excuse of it is that his doctor went to england, so they had to get another doctor to deal with it etc, so it took a load of time, etc) My mother (a nurse) in anticipation made all the immediate relations get tested for this, since a lot of us could have it and it can be cured over time by taking a pint of blood a week or something nasty, but if you're not treated then when you're older your liver and some other organs suffer, and you'll die younger.

thats what I understand anyway.. as it happens the tests showed a few of the ppl to be carriers. Apparently, as in the case of my uncle up until now, this disease is very commonly mistaken for something else, and the doctors don't recognise it for what it is.

I suppose nobody really knows how common it is, since its so badly diagnosed, but what are the stats say about it? Does anybody else know anyone who was diagnosed with it? I don't have it, but i have to get another blood test to see if i'm a carrier, and if i were, what would that imply?

Bob the Unlucky Octopus

Haemotology was never my favorite subject, but I'll see if my colleagues or consultants know the details. In the meantime try searching medline, use internet search engines. I'll look up some texts/articles and see what I can find. Watch this space.

Occy

Bob the Unlucky Octopus

It didn't take a lot of searching at all, once a colleague reliably informed me that this hereditary condition is in fact, quite rare in the Northern Hemisphere, but almost endemic in Southern Hemisphere caucasian populations. That narrowed it down of course- I then e-mailed an Australian colleague who I was at school with, who provided me with some public sources.

Here's one of them: http://www.abc.net.au/rn/talks/8.30/helthrpt/stories/s2008.htm

As the article shows, haemochromatosis(or hemochromatosis as it should be spelt ) is a genetic disorder that is caused by an excess of iron content in hemoglobin- resulting in unwanted and harmful ferrous deposits in several organ structures.

A search of the Amercian-based medline hepatology section then led me to a list of medical sources, all of which are linked to this article on the screening process:

http://hemochromatose.tripod.com/aa/may20002.htm

Source 3 is the one you'll want to check at your local library regarding the possibility that you or your family might be carriers- seeing how it's a homozygous recessive disorder, only a blood screen will tell you for sure. I advise a meeting with your family doctor, who can tell you more about the screening process, what the results mean, and where to get one.

Hope that helped killy- and best wishes to your uncle for his treatment.

Occy

DadaKopf

Dunno the ins and outs of of the causes of it but I know the end result of haemochromotosis is cirrhosis of the liver and, I presume, in untreated patients, death - or liver transplant. It's hereditary but if detected early in one's live, can be avoided with the help of a pill. Apparently it's quite common in Ireland, nesting around the north-west.

That's my two cents.

Bob the Unlucky Octopus

From the reading I've done there is no pill or gene therapy to treat hemochromatosis as yet- the only treatment is periodic exsanguination. Still looking for information though.

Occy

DadaKopf

Hmm, yeh, now that I think of it, I think 'exsanguination' is the only thing to keep it at bay. I think it's hereditary though, I know this just because it runs in one side of my family. It affects your immune system as well, I THINK.

Illkillya

About 1 in 8 people are probably carrying the defect

thats in Australia where you say its most common, but it says here:

It's thought to be originally a Celtic gene, and if we look at the chromosome and the pattern of markers along the chromosome carrying the defective gene, we see the same pattern in areas where there's a high level of Celts, for example in Northern Italy, Northern France, in the UK, particularly in Wales and Scotland and Ireland

would have to make you wonder about how many ppl have the disease itself that aren't treated in ireland where the health system is so lax. Since 40% of Australians have Irish genes, I'm tempted to believe that the reason its "more common" in Australia is because the doctors actually recognise it.

Most of whats there my mother already knew, but this is very interesting - thanks for the info Occy and dadakopf... its kind of funny if it turns out that my bro has the disease.. too much iron in his blood, because his fiancé is anaemic

As for my uncle, hes physically deteriorated beyond repair, looks like hes dying, always fatigued and weak like a 90 year old.... another victim of the Southern health board's incompetence

DadaKopf

Well that accounts for the concentration of it in the north-west of the country where the [and i dont like this term or speak at all at all] purest Irish Celtic genes are comapred to the east and south-east although the counties like Leitrim, Sligo, Roscommon, Monaghan and Cavan for some reason have higher than normal instances of all kinds of diseases but in particular, rare forms of cancer - brain tumour clusters and many cases of leukemia.

Us Irish are most certainly an inferior race, every day I thank my sallow skin! Hehehehe.