Hereditary Haemochromatosis is the most common genetic disorder afflicting those of European descent. In South Africa, which has one of the highest rates in the world, genetic tests for Iron Overload have shown that approximately 17% of the Caucasian population (ie. 1 in 6) are carriers (have one gene only) of the HFE C282Y gene mutation and 1 in 115 could have inherited two mutations, which would place them at risk of developing the clinical symptoms of Haemochromatosis.
It is the most common genetic disorder (declared thus by the Centers for Disease Control in Atlanta, GA) yet many physicians, having been led to believe that it is so rare, are not on the alert for signs of the disease…because they simply do not expect to find them.
This genetic disorder of iron metabolism will cause irreversible damage if not detected in time. It is treatable and need not be fatal. For this reason the Haemochromatosis Society of South Africa is dedicated to raising awareness of HH, encouraging testing of families for raised iron levels (and where necessary genetic testing), and providing information regarding the symptoms and the importance of early diagnosis to doctors and patients alike.
Iron is vital for life, but in large doses it can be fatal. It is absorbed by the gut and transported by the protein Transferrin. This protein must not become too saturated by iron in order for it to work properly and bind iron. Saturation should remain between 25-35%. Iron not bound to Transferrin is called ‘free-iron’ and this causes cell damage wherever it is deposited. The first place it ends up is in the Liver, which is why one of the major indications of undiagnosed Iron Overload is liver cirrhosis and cancer (as cancer thrives on iron).
This website has been developed in loving memory of Paul Geoffrey Bird (1974-2000), who died from complications due to Juvenile Haemochromatosis in Port Elizabeth, 16 February 2000, aged 25; and in memory of Frederick (Tom) Warder, who died after years of illness due to HH, in South Africa on July 9, 1992.
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|  (Paul Geoffrey Bird) |