<a href="http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Haemochromatosis?open">Haemochromatosis - Better Health Channel</a><br/>
Haemochromatosis (iron overload disorder) causes the body to absorb more iron than usual from food. Haemochromatosis is one of the most common hereditary diseases. Excessive iron can cause damage to organs such as the liver, heart and pancreas. Possible early symptoms include weakness and lethargy, weight loss, joint pain in the fingers, liver complaints, impotence and low sex drive, irregular menstrual periods or early menopause, loss of body hair and skin darkening.
Where Did Haemochromatosis Originate?
ReplyDeleteIt is a widely held belief amongst researchers that genetic or hereditary haemochromatosis originated around 40,000 years ago in Ireland. Famine and a very poor diet contributed to a mutation of genes in a single ancestor in order to absorb extra iron. Nature was very clever in giving a "helping hand" at the time - and it was obviously beneficial way back then, however these days, the descendants of these Celtic people who have inherited this gene from their ancestors do not have any need to store extra iron, infact they are accumulating way too much iron which is toxic to the body in excess. The C282Y gene is the gene associated with many people of Irish descent.
The gene H63D seems to be prevalent among people of Northern Italian descent.
What Do The Genetic Mutations Mean to Me?
More than 90% of haemochromatosis patients are homozygous for C282Y. This means they carry a double gene mutation of C282Y. C282Y/C282Y. This is the most severe form haemochromatosis and will result in significant iron overload and symptoms will usually appear earlier than with other genetic expressions.
Those who are heterozygous for C282Y are carriers but very rarely develop significant iron overload. ie, they carry one single mutation of the gene. C282Y
Compound heterozygotes with one copy of H63D and one copy of C282Y may develop iron overload. This is usually not as severe as in C282Y homozygotes but may be clinically significant and may still result in the need to give blood to keep iron levels and transferrin saturation within limits. C282Y/H63D
Homozygotes for H63D or S65C may have iron overload in some cases, usually mild. H63D/H63D or S65C/S65C
Heterozygotes of H63D or S65C are very unlikely to have iron overload. H63D or S65C or H63D/S65C
http://www.haemochromatosis.org/genetic-disorder.html