Haemachromatosis, known as a celtic gene/ disease here in central Scotland, is amazingly common here. I assume, similarly in Ireland, Wales & other places the celtic diaspora reached. However, I had hardly heard of it, until, in the last 10 years, me and my cousins got talking, as you do, at a family funeral. My dad's family had 9 siblings, of which only 2 are still alive. My aunt who is about 7 years younger than Dad (he's 93), who it transpired later has the disease, and her 2 daughters ( her only children) are both carriers. I was tested for ferritin, which seems ok ( high normal), and my Dad at 93 I assume does not have the disease. I suppose I could be a carrier. I assume that my 2 sisters were also tested. They could be carriers I suppose, but I dont believe they have the disease (ferritin test). You dont usually get the genetic test here unless done privately, unless the ferritin is not normal. However another set of cousins a family of 4, are 2 with the full blown disease and the other 2 are carriers. As this is a recessive gene it means the defect must have been in both sides at that marriage.
My dad's siblings seemed to be 'blessed' with either poor health ( 5 had very serious cardiac problems that to different extents blighted their lives), while the others were very well, living beyond their 3 score years and 10, and I do wonder if this little known disease might have had something to do with it!
Another reason one of my sisters might not have had the gene test would be that her husbands family has the gene, and her husband has the disease, so their children are already exposed to the likelihood of being carriers.
Yep, it is that common here! It may be especially common here because up until my generation, while I find very few cases of dangerous marriages between near relatives, it is true that my forebearers maried within the community, from those of Irish Catholic origins, similar to themselves. I'm sure the same goes to the other parts of the UK & beyond where the Irish went to over the years!
Anyway, that's why I am personallly interested in this topic, and will keep reading , writing & listening on this topic!
PS - one reason we may not have encountered this disease much untill current times was that it could be mis-diagnosed as something else, or simply be undiagnosed. Of course, people tended to die much more often, earlier, of other unrelated diseases ( tb for example), till recently, so this disease which often manifests itself with maturity, lets put it, might well not have been seen very often!
