A blood test in May showed my ferritin level to be very elevated at 1000ng/ml, well above the normal of 300ng/ml. It came down to 760, then in September dropped to 545. I was tested for haemochromatosis. I was negative for the more common strain but found to be positive for the H63D mutation. Can you explain what this is? And what, if any, improvements to diet could help this condition? - PM
Haemochromatosis is a fancy name for too much iron in the body. Ferritin is the protein that stores iron in our cells and very high levels of it can mean we're iron overloaded. Iron is essential for making haemoglobin, the molecule that carries oxygen in red blood cells, but too much is toxic - especially in our liver cells. Over decades it accumulates and causes organ damage. Haemochromatosis, or iron overload, affects around one in 300 New Zealanders and is usually caused by a genetic mutation, though it can also be caused by repeated blood transfusions or certain blood disorders.
Nowadays it's a disease, but 40,000 years ago when it originated in what is now Ireland, haemochromatosis was actually a useful genetic adaptation. It allowed people to extract far more iron from food than normal.
But with our modern diet, such a common mutation leads people to store more iron than they need. And because the body doesn't have an effective way of getting rid of that excess iron, they develop iron overload.
In New Zealand, a quarter of the population will test positive for an H63D gene mutation, because it's very common in those with northern European ancestry. But by itself it almost never causes problems. It's the other mutation, C282Y, that causes almost all the problems, especially for those who to inherit one copy from each parent. They frequently develop iron overload, with the highest incidence occurring in elderly white males. The essential first step for someone with high ferritin levels isn't going to be diet modification, but rather getting to the root cause of those high levels. High ferritin usually means iron overload, but it can also be due to hepatitis C, liver cancer, or even bacterial infections. Give your GP a ring and keep on top of this. If you have questions, don't be afraid to ask your doctor. This stuff is too complex and important to risk miscommunication.